Sickle cell anemia is an example of a mutation. Sickle cell anemia: an inherited risk

Sickle cell anemia is the result of gene mutations in the area responsible for controlling the formation of beta chains in a complex protein, in the context of hemoglobin. As a result of mutation, one amino acid in the b-globin chain is replaced. Specifically: glutamic acid in position 6 is replaced by valine.

That is, the protein formula is now unstable and, against the background of progressive hypoxia, its structure changes. Crystallization and polymerization occur, and altered hemoglobin HbS is formed. What causes the destruction of the shape of red blood cells - they are longer, thinner, and outwardly begin to resemble sickles.

Hereditary disease - sickle cell anemia: what is it?

Arterial type blood flows from the lungs and carries oxygen throughout the body, but at the tissue level it penetrates into the cells of all organs, and this will inevitably lead to a protein polymerization reaction and the appearance of crescent-shaped red blood cells.

In humans, sickle cell anemia is only reversible in the early stages. The secondary passage of the pulmonary capillaries again saturates the blood with oxygen, which returns the red blood cells to their adequate forms. But destructive changes are repeated as blood passes through tissues, as a result - the structure of the erythrocyte membrane is disrupted, permeability is increased, potassium and iodine ions leave the cells. At this moment, cardinal changes in the erythrocyte are “fixed”; they change irreversibly.

The ability of plastic adaptation in sickle-shaped erythrocytes is greatly reduced; it can no longer undergo reverse deformation when passing through the capillaries, so it clogs them. Which leads to disruption of the blood supply to various systems and organs, tissue hypoxia develops. This provokes a further increase in the number of month-like red blood cells.

In patients with sickle cell anemia, the red blood cell membrane is too brittle and fragile, so the cell's lifespan is very short. Against this background, the total number of red blood cells decreases, local disruptions appear in the circulatory cycle at the tissue level, blood vessels become clogged, and erythropoietin begins to be intensively formed in the kidneys. This accelerates the processes of erythropoiesis in the red matter of the bone marrow, thereby compensating for the anemic state.

It should be noted that HbF, which consists of both alpha chains and gamma chains, reaches a concentration of 10% in some erythrocytes, but is not subject to polymerization reactions and is able to prevent the deformation of erythrocytes to a sickle shape. Cells with minimal HbF content are among the first to change, almost immediately.

Inheritance of sickle cell anemia

As stated above, sickle cell anemia is inherited as a genetic disease. The mutation is caused by changes in one or two genes responsible for encoding b-chains in the protein. This pathology does not occur independently in the body, but is transmitted from both parents.

Sex cells contain 23 chromosomes. At the moment of successful fertilization, they merge, thus a zygote appears, that is, a cell with new qualities. The fetus then develops from it. The nuclei of germ cells of both sexes merge with each other, and, in fact, thanks to this, the full chromosome set (23 pairs) is restored. Which is inherent in the cells of the human body. Thus, the newborn will inherit genetic material from both mother and father.

Sickle cell anemia: mode of inheritance – autosomal recessive. For a born child to be sick, he must receive mutated genes from both parents. It all depends on which particular set of genes the newborn inherited:

A child diagnosed with sickle cell anemia. But this option will be possible if the following condition is met: the mother and father have this pathology or are its asymptomatic carriers. Another condition is that the newborn receives one “defective” gene from each. This is called the homozygous form of the disease.
Again, a person is born who is an asymptomatic carrier. This variant develops if the baby “inherits” only one defective gene, and the second is normal. This is called the heterozygous type of the disease. As a result, the red blood cell contains approximately equal amounts of both type S and type A hemoglobin. This helps maintain optimal shape and erythrocyte function, provided that there are no aggravating pathologies.

That is, in humans, sickle cell anemia is inherited both incompletely (carrier) and completely (sick person). Doctors did not find any other variants of mutations. But the exact reasons for their development in parents have not been established until now. Only a number of factors are assumed that lead to mutations, whose direct effect on the body will lead to distortion of the genetic cellular apparatus, provoking a wide range of chromosomal pathologies.

Sickle anemia: diagnosis and treatment

Only a hematologist can diagnose and treat sickle cell pathology. The diagnosis is not made only on the basis of external symptoms; it is necessary to collect a detailed family history, clarify the time and circumstances under which the signs of pathology appeared for the first time. But the diagnosis can only be confirmed through specific examinations:

Sickle cell anemia in one population is determined by:

Traditional blood test.
Blood biochemistry.
Results of ultrasound, radiography.

There are no effective treatments that make it possible to completely get rid of this disease. The patient can only be helped by preventing an increase in the number of modified red blood cells. In addition, it is necessary to stop the external signs of the disease in a timely manner.

The principal treatment for this anemia consists of:

Healthy lifestyle.
Medicines that increase hemoglobin protein levels and increase the number of undeformed red blood cells.
Oxygen therapy.
Relief of local pain.
Eliminate iron deficiency.
Prevention of viral invasions.

A method that allows you to determine the percentage probability of inheritance of a pathology is PCR. The parental genetic material is examined and mutated regions of the genome are identified. The result is considered to be both their presence/absence and the determination of the type and form of the disease if present – homozygous/heterozygous anemia.

Sickle cell anemia – a blood pathology in which red blood cells take the shape of a sickle. This leads to poor blood oxygen saturation and hypoxia of internal organs.

Sickle cell anemia - basic concepts

The cause of the disease is a gene mutation. In humans, sickle cell anemia is inherited as an autosomal recessive trait. The disease is more common in residents of Africa and Asia, and people in the Middle East. Sometimes the disease affects Europeans.

Reasons for development

The disease is transmitted genetically according to an autosomal recessive mode of inheritance. In heterozygotes, who have only one pathological gene in a pair, both normal and pathological forms of erythrocytes are observed in the blood. In this case, the prognosis of the disease is more favorable. Homozygous people, in whom both genes encode a defect in a pair, usually die in childhood. Heterozygotes have a much more favorable prognosis for the disease.

The sickle cell anemia gene is a section of a DNA chain. Contains codons, each of which encodes the formation of its own amino acid, which is included in the encoded protein. A codon consists of three nucleotides (triplet). A nucleotide is a nitrogenous base, a deoxyribose sugar, and a phosphoric acid residue linked together. In sickle cell anemia, in the pathological triplet the nitrogenous base Adenine is replaced by Thymine (GAG codon to GTG). As a result, the triplet encodes another amino acid, which should not be in this place in the hemoglobin protein.

Erythrocytes are red blood cells containing hemoglobin. Hemoglobin consists of alpha and beta chains, which are 4 polypeptide chains consisting of amino acids. In sickle cell disease, the defective gene encodes valine instead of glutamic acid in the beta chains. Valine, unlike glutamic acid, is hydrophobic, i.e. insoluble substance. This leads to a change in the conformation of hemoglobin and the appearance of sickle-shaped red blood cells (drepanocytosis). In people with normal red blood cells and hemoglobin, hemoglobin A is present in the blood and the shape of the blood cells is biconcave and round. In individuals with drepanocytes in the blood, hemoglobin A is replaced by hemoglobin S. Other types of HbS are also present.

Sickle-shaped red blood cells do not have the elasticity characteristic of normal red cells. This leads to sludge, i.e. their gluing in the lumen of the vessel, as well as thrombus formation. As a result, tissues and organs are in a state of chronic oxygen starvation (hypoxia).

Symptoms and signs

Manifestations of sickle cell anemia are associated with circulatory disorders. After all, sickle-shaped red blood cells (drepanocytes) do not pass well through narrow capillaries, lacking proper elasticity.

Children with homozygous sickle cell anemia usually do not live long. Severe disturbances develop in the hypoxia-sensitive nervous system. The child is developmentally delayed, the skeleton develops incorrectly - the skull takes on a tower conformation, the spine is curved in the form of lordosis and kyphosis. Children with this blood pathology, as a rule, often suffer from colds.

The hypoxic condition is aggravated by the destruction of red blood cells both in the bloodstream and in the spleen. At the same time, the organ increases in size. The load on it increases, which leads to ischemia of the spleen and even its infarction, an increase in pressure in the portal vein system leading to the liver.

When a large number of red blood cells are destroyed (hemolysis), a lot of bilirubin is released, which must be converted into a bound form in the liver.

Hemolysis enhances the hypoxic state, which can manifest itself in the following symptoms:

Pain in bones and joints (arthralgia).
Loss of consciousness up to coma, fainting, low blood pressure.
The appearance of an erection of the penis without previous arousal (priapism).
Visual impairment due to circulatory disorders in the retina.
Abdominal pain resulting from ischemia and thrombosis in the mesenteric vessels of the intestine.
The spleen first enlarges (splenomegaly), then may decrease in size and atrophy.
The liver enlarges due to an increased load of bilirubin on it.
Ulcers on the upper and lower extremities.

There is also a decrease in immunity and a tendency to opportunistic infections = Pneumocystis pneumonia and meningitis. Immunodeficiency occurs due to dysfunction of the spleen, deposition of hemosiderin, which contains iron, in it. Iron in hemosiderin is a strong oxidizing agent that causes scarring in organs - the liver and the reticuloendothelial system - bone marrow, spleen.

Infarctions occur in parenchymal organs due to vascular occlusion. Renal infarction can cause kidney failure. Due to blockage of bone vessels by drepanocytes, aseptic necrosis of bone tissue develops - this is the cause of curvature of the bones of the skull and spine. In combination with a weak immune system, aseptic bone necrosis can lead to secondary infection and the occurrence of osteomyelitis. Aseptic osteomyelitis is also possible.

Hemolytic anemia leads to elevated levels of unconjugated bilirubin. The latter undergoes transformation in the liver by binding to glucuronic acid residues. Since hemolysis in patients with sickle cell anemia is active, the liver and gallbladder are overloaded. This manifests itself in the form of inflammation of the gallbladder and the formation of pigment stones in it.

The disease occurs with crises:

Hemolytic.
Aplastic.
Sequestration.
Vascular-occlusive.

Hemolytic crises occur when drepanocytes are destroyed in the bloodstream. This can lead to a coma as a result of brain hypoxia. Jaundice occurs - discoloration of the skin and mucous membranes in a lemon-yellow color. There is cyanosis and pallor of the skin, chilliness.

Laboratory tests reveal an increase in unconjugated bilirubin in the blood, and in the urine - hemoglobin breakdown products.

Aplastic crises are manifested in blood tests - the number of young red blood cells (reticulocytes) is reduced due to suppression of the proliferation of red cells in the bone marrow. Hemoglobin levels also decrease.

Sequestration crises are characterized by retention of blood in the spleen and retention of formed elements in its red pulp. In this case, patients feel pain in the abdomen. The liver and spleen enlarge, the pressure in the portal vein system increases, which can manifest itself in the expansion of veins in the abdomen in the form of jellyfish tentacles. Due to the deposition (storage) of blood in the spleen, low pressure may be observed, and the patient feels weak.

Vascular-occlusive crises are a consequence of blockage of blood vessels by rigid red blood cells that have lost their elasticity. The vessels of the retina, kidneys, brain, spleen, heart, lungs, penis, and intestines are subject to occlusion. The veins and arteries, as well as the capillaries of the eyes, become thrombosed, which leads to blurred vision, double vision, and the appearance of spots in the field of vision. Blood circulation in the kidneys is impaired, resulting in renal failure and uremia, autointoxication with nitrogen metabolism products.

Thrombosis of capillaries and arteries can also occur in the brain, causing neurological disorders. Transient paralysis of the limbs is possible. Impaired speech, swallowing, and chewing food are a consequence of occlusion of the cerebral vessels supplying the nuclei of the cranial nerves.

The coronary vessels of the heart, being clogged with rigid drepanocytes, do not bring blood to the myocardium, as a result of which microinfarctions and the appearance of scars in the heart are possible.

Occlusion in the lungs may develop in the form of pulmonary embolism. This leads to increased pressure in the pulmonary circulation and attacks of cardiac asthma with pulmonary edema.

Thrombosis of mesenteric vessels leads to severe abdominal pain and possible intestinal necrosis with the development of peritonitis and intestinal obstruction.

Disruptions in the blood circulation of the penis lead to priapism, a phenomenon in which the organ is in a state of erection. Thrombosis of the penis can lead to fibrotic changes in it and impotence over time.

Since hemoglobin S has poor solubility, the blood of patients suffering from sickle cell disease has poor fluidity. The osmotic stability of pathological forms of erythrocytes remains, as a rule, normal. But people with this disease are sensitive to fasting and hypoxia. During physical and mental stress, as well as irregular meals and dehydration, patients experience hemolytic crises. These conditions, even in heterozygous individuals for this disease, can lead to coma and even death. In this case, hemoglobin turns into a gel form and crystallizes, which sharply impairs the permeability of drepanocytes through the capillaries.

The risk of gallstone disease is increased, as a lot of bilirubin pigment is formed. Irregular eating aggravates the problem.

Women experience reproductive dysfunction, expressed in menstrual dysfunction, early and late abortions due to vascular thrombosis. Menstruation in girls with sickle cell disease tends to be delayed.

A complete blood test is required to detect sickling. The presence of different types of hemoglobins in the bloodstream - hemoglobin A and hemoglobin S - is also determined by electrophoresis. Other types of hemoglobins may also be detected, for example, HbF (fetal). A test is carried out with metabisulfite, which promotes the precipitation of altered hemoglobin. Hypoxic provocation is also used by applying a tourniquet to the finger.

Conduct genetic analysis – detection of the sickle cell anemia gene. It is necessary to determine the homo- or heterozygosity of the disease.

The blood picture is a large number of reticulocytes, a decrease in the color index (may be normal) and the total number of red blood cells, an increase in the level of myelocytes. Anisocytosis and poikilocytosis are noted. Pulse oximetry reveals a decrease in the partial pressure of oxygen.

A bone marrow puncture is performed, and hypertrophy of the erythroid lineage of hematopoiesis is observed. The lifespan of red blood cells is also being studied using radioactive isotopes of chromium.

To diagnose the hemolytic process, a biochemical blood test is performed for indirect (unconjugated) bilirubin, a stool test for stercobilin, a urine test for urobilin, and hematuria.

If the shape of the bones changes, an x-ray examination is performed to detect avascular necrosis or osteomyelitis. Differential diagnosis is made with rickets, which may cause changes in the bones of the spine. Other blood diseases are thalassemia.

Therapy

The goals of treating this pathology boil down to eliminating increased blood viscosity with the help of antiplatelet agents and anticoagulants. Aspirin (Tromboass) and Clopidogrel (Plavix) are prescribed, which are used to prevent thrombosis of the coronary vessels and internal organs. To prevent miscarriages in expectant mothers, anticoagulants are used - heparin, sulodexide, clexane.

In order to treat septic complications of the disease, antibacterial drugs are used. Prophylactic vaccination against Pneumocystis pneumonia.

Maintaining the normal function of internal organs in conditions of oxygen starvation is carried out by taking Mexidol, Mildronate. Taufon drops are used for the eyes to improve microcirculation.

Mexidol Mildronate Taufon

During hemolytic crises in patients with sickle cell anemia, artificial ventilation of the lungs is used, as well as infusion of red blood cell donor mass with saline solution. To stimulate hematopoiesis, folic acid and vitamin B12 are prescribed.

Regular split meals are also important, avoiding long breaks between meals. After all, a hypoglycemic state provokes hemolytic crises, which can manifest as weakness, fainting, and decreased blood pressure. In some cases, death is possible. Fasting with this type of anemia is contraindicated, as it leads to severe hypoglycemia, which is fraught with massive death of pathologically altered blood cells - drepanocytes. Dehydration through sweating and drinking insufficient amounts of water can contribute to sludge of formed elements. Therefore, overheating of the body should be avoided, which helps to reduce the partial pressure of oxygen and provoke hemolytic and vascular-occlusive crises.

Fractional nutrition is also necessary for the stable functioning of the gallbladder and to prevent the process of stone formation in it. Avoid foods with too much fat. Choleretic drugs may be needed to prevent bile stagnation and crystallization of stones.

Physical activity must be strictly dosed, focusing on your well-being. You should avoid traveling to mountains, climbing to great heights, flying in aircraft, and diving to great depths. After all, this worsens the deposition of hemoglobin in red blood cells. The partial pressure of oxygen in the blood drops - the process of deposition of pathological HbS accelerates.

To prevent hemolytic processes and eliminate the hypoxic state, hyperbaric oxygenation is used. The use of oxygen under high pressure promotes the healing of skin ulcers on the legs. To accelerate the restoration of the integrity of the skin, Solcoserine ointments are used.

Often with splenomegaly caused by this type of anemia, tuberculosis occurs, which requires special treatment.

Conclusion

The disease is transmitted genetically, inheritance is an autosomal recessive type. Treatment is to reduce blood viscosity with antiplatelet agents and avoid oxygen starvation.

Sickle cell anemia is clinically characterized by symptoms caused, on the one hand, by thrombosis of blood vessels of various organs by sickle-shaped erythrocytes, and on the other, by hemolytic anemia. The severity of anemia depends on the concentration of HbS in the red blood cell: the higher it is, the brighter and more severe the symptoms. In addition, other pathological hemoglobins may be present in erythrocytes: HbF, HbD, HbC, etc. Sometimes sickle cell anemia is combined with thalassemia, and the clinical manifestations may decrease or, on the contrary, increase. IN initial period The disease primarily affects the bone marrow system: swelling appears, as well as pain due to thrombosis of the vessels feeding the joint and bone. Aseptic necrosis of the femoral head with subsequent infection and osteomyelitis is possible. Hemolytic crises usually develop after infections, have a regenerative or hyporegenerative nature and are the main cause of death in these patients. In rare cases, a sequestration crisis is observed due to the deposition of blood in the spleen and liver, which is expressed by abdominal pain syndrome due to the rapid enlargement of these organs and is accompanied by collapse; in this case, hemolysis may be absent; pulmonary infarctions occur due to impaired microcirculation at the level of the pulmonary vessels. In second period a constant symptom is hemolytic anemia. Bone marrow hyperplasia developing in the tubular bones (active hematopoiesis occurs in them as a compensatory reaction to hemolysis) is accompanied by characteristic skeletal changes: thin limbs, a curved spine, a tower-shaped skull with convexities in the forehead and parietal bone. Hepato- and splenomegaly develop due to the activation of erythropoiesis, as well as secondary hemochromatosis and thrombosis; In some patients, cholelithiasis develops. Hemosiderosis of the heart muscle leads to heart failure, and hemosiderosis of the liver and pancreas leads to cirrhosis of the liver and diabetes mellitus. Renal vascular thrombosis occurs with hematuria and subsequent renal failure. Neurological symptoms are caused by stroke, cranial nerve palsy, etc. Trophic ulcers on the lower extremities are characteristic. Most patients with severe sickle cell anemia die within 5 years, and those who survive this period enter the third period, which is characterized by signs of mild hemolytic anemia. Their spleen is usually not palpable, since repeated infarctions lead to its shrinkage - autosplenectomy. The liver remains enlarged, unevenly compacted, and frequent infections often take a septic course. Hematological changes. Hemoglobin concentration decreases (< 80 г/л) и в среднем составляет 50 г/л, особенно во время гемолитического криза. Анемия нормохромная, регенераторная; ретикулоцитоз - 5-15%. Встречаются эритроциты с тельцами Жолли. Количество лейкоцитов в период криза повышено до 20×109/л. В костном мозге наблюдается гиперплазия эритроидного ростка. Для выявления серповидности эритроцитов проводят специальную пробу: каплю крови покрывают стеклом, герметизируют, для чего края стекла смазывают вазелином; через несколько минут парциальное давление кислорода в капле крови под стеклом снижается и эритроциты принимают серповидную форму. Более информативен электрофорез гемоглобина: при серповидно-клеточной анемии у гомозигот основную массу составляет HbS, HbA отсутствует, содержание HbF повышено; у гетерозигот при электрофорезе наряду с HbS выявляют НЬА. В крови повышено содержание свободной фракции билирубина, увеличено содержание сывороточного железа; осмотическая резистентность эритроцитов повышена. Гетерозиготные больные чувствуют себя практически здоровыми; анемию и морфологические изменения эритроцитов обнаруживают у них только в условиях гипоксии (подъем в горы, тяжелая физическая нагрузка, полет на самолетах и т.п.). Однако гемолитический криз и у них может закончиться летально. Таким образом, The clinic of sickle cell anemia is characterized by polysymptoms: jaundice of the skin, hypoxic syndrome, hepatosplenomegaly, skeletal deformation, repeated organ thrombosis; from hematological symptoms: regenerative anemia, sickling of erythrocytes detected by special tests, hyperbilirubinemia due to the free fraction. A person’s belonging to a certain ethnic group gives reason to suspect this disease and begin a targeted examination to confirm or exclude this anemia.

But it is interesting that this feature allows it to protect itself from the penetration of the malaria pathogen into the body.

Information about the disease

The disease belongs to a variety of hemolytic pathology. Its name is due to the fact that the shape of red blood cells is irregular, resembling a sickle. Due to a defect in their structure, the functions of the blood and its composition change.

Red blood cells cannot be fully saturated with oxygen, and their life cycle decreases. They are destroyed not after three or four months (as is normal), but much earlier.

The same thing happens with hemoglobin inside sickle cells. Hence the development of anemia, since the bone marrow does not have time to produce new blood cells.

Causes of blood disease

Sickle cell anemia is considered a hereditary disease. Due to a gene mutation, hemoglobin S is synthesized, the structure of which is changed compared to normal.

Glutamic acid in the peptide chain is replaced by valine, and hemoglobin becomes a poorly soluble, highly polymeric gel. Therefore, red blood cells carrying this form of hemoglobin take on the appearance of a sickle. Their inability to be plastic contributes to the blockage of small vessels by red cells.

The type of inheritance of the disease is recessive. If the gene is transmitted to a child from one of the parents, a carrier of the mutation, then the child, along with the changed cells in the blood, will also have normal ones. In carriers of the gene with heterozygous anemia, the symptoms of the pathology often manifest themselves in a mild form.

When the defect is inherited from both mother and father, the disease takes on severe forms and is diagnosed in young children. She is called homozygous.

The provocateur of a gene mutation in a person is determined by:

malaria pathogen;
viruses that reproduce inside cells;
ionizing radiation that affects the human body for a long time;
heavy metal compounds related to aggressive mutagens;
drug components containing mercury.

As a result of the action of these factors, sickle-shaped red blood cells are produced.

The difference between a dominant type of inheritance and a recessive one

Any genetic disease is inherited in two types. Dominant is characterized by the fact that the disease will be transmitted to a representative of each generation, regardless of gender.

Even if one of the parents is the carrier of the gene, 25 percent of the offspring will suffer from the pathology.

The recessive type of inheritance is characterized by the fact that the gene mutation is found in only half of the descendants of one carrier. If one of the parents carries the gene for the disease, symptoms may appear within a generation.

Genetics says that recessive inheritance occurs more often in men. Girls can inherit it from their father. Healthy parents may produce a son with a recessive gene.

What triggers the development of anemia

Blood pathology can also occur for other reasons. This includes the presence in adults of:

lupus erythematosus;
blood diseases;
diseases of the immune system – amyloidosis;
sepsis;
chronic glomerulonephritis;
bacterial endocarditis.

Symptoms of sickle anemia may appear as a result of a blood transfusion, after an organ transplant or prosthetics.

These causes are less common than the hereditary factor of the disease.

Clinical picture and stages of the disease

Depending on the number of defective red blood cells in a person’s blood, the following symptoms of the disease occur:

Thrombosis of blood vessels leads to swelling and pain in joints and bone tissue.
In the absence of nutrition and lack of oxygen, osteomyelitis develops. As the disease progresses, the limbs become thinner and the spine becomes bent.
At the second stage of the disease, anemia develops with the gradual destruction of red blood cells - hemolysis. In this case, the patient experiences an enlargement of the liver or spleen. Biochemistry reflects what is happening. With the maximum development of destruction of red blood cells, body temperature rises.
Change in urine color to red-brown or black. Yellowness of the skin and mucous membranes is detected.

These signs appear in heterozygous heirs who are carriers of the gene, but only during periods of intense physical activity, airline flights, and climbing high in the mountains. Brain hypoxia at this moment provokes the onset of a hemolytic crisis.

How does the disease progress in children?

Both parents, as carriers of the gene, transmit the disease of the homozygous type to their child. In the blood of a newborn by four to five months of life, the sickle-shaped red blood cells predominate by 90 percent. Anemia develops against the background of hemolysis, the rapid breakdown of red cells. In children:

growth retardation develops, mental abilities are reduced;
signs of spinal curvature appear;
the frontal sutures of the skull thicken;
the skull is deformed, taking on the appearance of a tower;
joints swell;
pain occurs in the bones, muscles of the chest, abdomen;
The skin and sclera turn yellow.

Symptoms become more pronounced if the concentration of defective hemoglobin increases.

The addition of infection, hypoxia, stress, and dehydration in a hereditary form of anemia leads to the development of crises, and the rapid breakdown of red blood cells leads to increased formation of bilirubin and coma.

Diagnostic methods

It is not always possible to make the correct diagnosis based on external manifestations. Therefore they carry out:

General blood analysis. It will show an accurate picture of the peripheral blood and inform you about the condition of the internal organs.
Blood biochemistry to assess the qualitative composition of this biological fluid. With anemia, the level of bilirubin will be higher than normal, and the content of free hemoglobin and iron will be increased.
Electrophoresis. The procedure will show what type of hemoglobin the patient has.
Ultrasonography. It will help identify enlargement of the liver, spleen, and the presence of heart attacks in them. Diagnostics will also show impaired blood flow in the extremities.
A puncture taken from the bone marrow will reveal the expansion of the erythroblastic lineage that produces blood cells.
X-ray of the spine, the entire human skeleton. The image will show deformations of bones, vertebrae, and purulent processes in them.

In heterozygotes, only tests can confirm the presence of the disease gene. This will warn mutation carriers from rash actions in terms of health, and will help them plan the birth of children correctly.

Blood picture

In patients with sickle cell anemia, the presence of:

decrease in hemoglobin level in dograms per liter;
cells with Jolly bodies, Cabo rings;
increased number of immature red blood cells - reticulocytes;
normochromia;
high level of leukocytes.

And with this type of anemia, the bone marrow produces immature red blood cells, releasing them into the peripheral blood.

Conservative treatment of the disease

The causes and clinical picture of sickle cell anemia are such that it cannot be completely eliminated, but the risk of undesirable consequences can be reduced. The complex of treatment measures includes donor blood transfusion.

Thanks to this procedure, oxygen will be transported throughout the patient's body for some time. Indications for transfusion are life-threatening conditions when the hemoglobin level is sharply reduced. But the disadvantage of the procedure is many adverse reactions of the body.

Medications used:

to eliminate pain syndrome - the synthetic drug Tramadol;
a drug with an analgesic, anti-shock effect - Promedol;
excess iron in the blood is eliminated with Desferal or Exjade;
glucocorticosteroids to normalize the size of the liver and spleen;
to prevent the addition of a bacterial infection - Amoxicillin, to eliminate it - Cefuroxime, Erythromycin.

Treatment must include medications containing folic acid.

One of the effective methods for relieving acute anemia is oxygen therapy, or hyperbaric oxygenation. Under the influence of gas entering the human body under pressure, oxidative processes return to normal and the level of intoxication decreases.

Splenectomy, an operation to remove the spleen, helps improve the patient's condition temporarily.

Considering the pathogenesis of anemia, hematologists can only carry out measures to prevent crises, relieve the patient of pain and other symptoms of the disease. It is not possible to completely get rid of the disease.

Possible complications

A long course of sickle anemia is fraught with frequently recurring crises, which complicates the serious condition in patients:

Changes in the spleen occur due to the processes of replacement of organ tissue with connective tissue. In this case, the spleen decreases in size and shrinks.
Disturbances occur in the form of renal failure, inflammation of the lungs and meninges, and sepsis.
The consequence of the disease in women is a tendency to miscarriage.
Lack of nutrition of the heart muscle leads to myocardial ischemia.
This cannot be done without the development of cholecystitis and the formation of gallstones, which is a consequence of the toxic effect of bilirubin in the blood.

Complications with homozygous anemia cannot be avoided. Only constant monitoring of the blood condition and bringing it back to normal will alleviate the patient’s suffering.

Prevention measures

The prognosis for patients with sickle disease is not always positive. If children receive the homozygous form of the disease, they die from infections or from blockage of blood vessels.

For carriers of the defective gene, the prognosis is more comforting, but they must follow a number of rules, which include:

choosing a place to live where the climate is moderate and the altitude above sea level is within 1.5 thousand meters;
avoidance of alcohol and drugs;
to give up smoking;
choosing a profession that is not associated with heavy loads, contact with toxic substances and work in rooms with high air temperatures;
drinking plenty of fluid daily, at least one and a half liters.

Before the birth of the child, both parents are examined. A hereditary disease can be detected if, after studying the gene material, a mutant of sickle cell anemia is identified.

Determination of mutagen in the early stages of embryo development is carried out using modern methods.

The positive result of the study poses a problem for future parents. After all, only they can appreciate the importance of the decision to terminate a pregnancy in a timely manner or hope for the birth of a healthy child, a carrier of the gene without symptoms of anemia.

Sickle cell anemia

Sickle cell anemia is a hereditary hemoglobinopathy caused by the synthesis of abnormal hemoglobin S, a change in the shape and properties of red blood cells. Sickle cell anemia is manifested by hemolytic, aplastic, sequestration crises, vascular thrombosis, osteoarticular pain and swelling of the extremities, skeletal changes, spleno- and hepatomegaly. The diagnosis is confirmed by examination of peripheral blood and bone marrow aspirate. Treatment of sickle cell anemia is symptomatic, aimed at preventing and relieving crises; Transfusion of red blood cells, taking anticoagulants, and splenectomy may be indicated.

Sickle cell anemia

Sickle cell anemia (S-hemoglobinopathy) is a type of hereditary hemolytic anemia, characterized by a violation of the structure of hemoglobin and the presence of sickle-shaped red blood cells in the blood. The incidence of sickle cell anemia is widespread mainly in Africa, the Near and Middle East, the Mediterranean basin, and India. Here, the carriage rate of hemoglobin S among the indigenous population can reach 40%. Interestingly, patients with sickle cell anemia have an increased innate resistance to malaria infection, since the malarial plasmodium cannot penetrate sickle-shaped red blood cells.

Causes of sickle cell anemia

Sickle cell anemia is caused by a gene mutation that causes the synthesis of abnormal hemoglobin S (HbS). A defect in the structure of hemoglobin is characterized by the replacement of glutamic acid with valine in the ß-polypeptide chain. The resulting hemoglobin S, after the loss of attached oxygen, acquires the consistency of a high-polymer gel and becomes 100 times less soluble than normal hemoglobin A. As a result of this, red blood cells carrying deoxyhemoglobin S are deformed and acquire a characteristic crescent-shaped (crescent) shape. Changed red blood cells become rigid, low-plasticity, can clog capillaries, causing tissue ischemia, and are easily subject to autohemolysis.

Inheritance of sickle cell anemia occurs in an autosomal recessive manner. At the same time, heterozygotes inherit the defective sickle cell anemia gene from one of the parents, therefore, along with altered red blood cells and HbS, they also have normal red blood cells with HbA in the blood. In heterozygous carriers of the sickle cell anemia gene, signs of the disease appear only under certain conditions. Homozygotes inherit one defective gene from both mother and father, so their blood contains only sickle-shaped red blood cells with hemoglobin S; the disease develops early and is severe.

Thus, depending on the genotype, in hematology, heterozygous (HbAS) and homozygous (HbSS, drepanocytosis) forms of sickle cell anemia are distinguished. Rare variants of the disease include intermediate forms of sickle cell anemia. They usually develop in double heterozygotes carrying one gene for sickle cell anemia and another defective gene for hemoglobin C (HbSC), sickle β-plus (HbS/β +) or β-0 (HbS/β0) thalassemia.

Symptoms of sickle cell anemia

Homozygous sickle cell anemia usually appears in children by 4-5 months of life, when the amount of HbS increases and the percentage of sickle red blood cells reaches 90%. In such children, hemolytic anemia develops early, and therefore there is a delay in physical and mental development. Disorders of skeletal development are characteristic: tower skull, thickening of the frontal sutures of the skull in the form of a ridge, kyphosis of the thoracic or lordosis of the lumbar spine.

There are three periods in the development of sickle cell anemia: I - from 6 months to 2-3 years, II - from 3 to 10 years, III - over 10 years. Early signals of sickle cell anemia are arthralgia, symmetrical swelling of the joints of the extremities, pain in the chest, abdomen and back, jaundice of the skin, and splenomegaly. Children with sickle cell anemia are classified as frequently ill children. The severity of sickle cell anemia closely correlates with the concentration of HbS in red blood cells: the higher it is, the more severe the symptoms.

Under conditions of intercurrent infection, stress factors, dehydration, hypoxia, pregnancy, etc., patients with this type of hereditary anemia may develop sickle cell crises: hemolytic, aplastic, vascular-occlusive, sequestration, etc.

With the development of a hemolytic crisis, the patient's condition sharply worsens: febrile fever occurs, indirect bilirubin in the blood increases, jaundice and pallor of the skin intensifies, and hematuria appears. Rapid breakdown of red blood cells can lead to anemic coma. Aplastic crises in sickle cell anemia are characterized by inhibition of the erythroid sprout of the bone marrow, reticulocytopenia, and a decrease in hemoglobin.

Sequestration crises result from the deposition of blood in the spleen and liver. They are accompanied by hepato- and splenomegaly, severe abdominal pain, and severe arterial hypotension. Vascular-occlusive crises occur with the development of renal vascular thrombosis, myocardial ischemia, infarction of the spleen and lungs, ischemic priapism, retinal vein occlusion, thrombosis of mesenteric vessels, etc.

Heterozygous carriers of the sickle cell anemia gene under normal conditions feel practically healthy. Morphologically altered red blood cells and anemia occur in them only in situations associated with hypoxia (during heavy physical activity, air travel, mountain climbing, etc.). However, an acutely developed hemolytic crisis in the heterozygous form of sickle cell anemia can be fatal.

Complications of sickle cell anemia

The chronic course of sickle cell anemia with repeated crises leads to the development of a number of irreversible changes, often causing the death of patients. In about a third of patients, autosplenectomy is observed - wrinkling and reduction in the size of the spleen caused by the replacement of functional tissue with scar tissue. This is accompanied by a change in the immune status of patients with sickle cell anemia and a more frequent occurrence of infections (pneumonia, meningitis, sepsis, etc.).

The outcome of vascular-occlusive crises can be ischemic strokes in children, subarachnoid hemorrhages in adults, pulmonary hypertension, retinopathy, impotence, and renal failure. Women with sickle cell anemia have a late development of the menstrual cycle, a tendency to spontaneous abortion and premature birth. The consequence of myocardial ischemia and hemosiderosis of the heart is the occurrence of chronic heart failure; kidney damage - chronic renal failure.

Prolonged hemolysis, accompanied by excessive formation of bilirubin, leads to the development of cholecystitis and cholelithiasis. Patients with sickle cell anemia often experience aseptic bone necrosis, osteomyelitis, and leg ulcers.

Diagnosis and treatment of sickle cell anemia

The diagnosis of sickle cell anemia is made by a hematologist based on characteristic clinical symptoms, hematological changes, and family genetic research. The fact that a child has inherited sickle cell anemia can be confirmed during pregnancy using chorionic villus sampling or amniocentesis.

In the peripheral blood, normochromic anemia (1-2x1012/l), decreased hemoglobin (50-80 g/l), and reticulocytosis (up to 30%) are noted. A blood smear reveals sickled red blood cells, cells with Jolly bodies and Cabot rings. Hemoglobin electrophoresis allows you to determine the form of sickle cell anemia - homo- or heterozygous. Changes in biochemical blood samples include hyperbilirubinemia, increased serum iron levels. When examining bone marrow puncture, expansion of the erythroblastic lineage of hematopoiesis is revealed.

Differential diagnosis is aimed at excluding other hemolytic anemias, viral hepatitis A, rickets, rheumatoid arthritis, tuberculosis of bones and joints, osteomyelitis, etc.

Sickle cell anemia is classified as an incurable blood disease. Such patients require lifelong observation by a hematologist, measures aimed at preventing crises, and, if they develop, symptomatic therapy.

During the development of a sickle cell crisis, hospitalization is required. In order to quickly relieve an acute condition, oxygen therapy, infusion dehydration, administration of antibiotics, painkillers, anticoagulants and disaggregants, and folic acid are prescribed. In severe exacerbations, red blood cell transfusion is indicated. Splenectomy cannot affect the course of sickle cell anemia, but it can temporarily reduce the manifestations of the disease.

Prognosis and prevention of sickle cell anemia

The prognosis for homozygous sickle cell disease is poor; Most patients die in the first decade of life from infectious or thrombo-occlusive complications. The course of heterozygous forms of pathology is much more encouraging.

To prevent the rapidly progressing course of sickle cell anemia, provoking conditions (dehydration, infections, overexertion and stress, extreme temperatures, hypoxia, etc.) should be avoided. Children suffering from this form of hemolytic anemia are required to be vaccinated against pneumococcal and meningococcal infections. If there is a family with sickle cell anemia, medical genetic consultation is necessary to assess the risk of developing the disease in the offspring.

Sickle cell anemia: signs, causes, treatment

Sickle cell anemia is a blood disorder in which red blood cells take on the shape of a sickle. This leads to poor blood oxygen saturation and hypoxia of internal organs.

Sickle cell anemia

Causes

Symptoms

When a large number of red blood cells are destroyed (hemolysis), a lot of bilirubin is released, which must be converted into a bound form in the liver. Hemolysis enhances the hypoxic state, which can manifest itself in the following symptoms:

Pain in bones and joints (arthralgia).
Loss of consciousness up to coma, fainting, low blood pressure.
The appearance of an erection of the penis without previous arousal (priapism).
Visual impairment due to circulatory disorders in the retina.
Abdominal pain resulting from ischemia and thrombosis in the mesenteric vessels of the intestine.
The spleen first enlarges (splenomegaly), then may decrease in size and atrophy.
The liver enlarges due to an increased load of bilirubin on it.
Ulcers on the upper and lower extremities.

The disease occurs with crises:

Hemolytic.
Aplastic.
Sequestration.
Vascular-occlusive.

Laboratory tests reveal an increase in unconjugated bilirubin in the blood, and in the urine - hemoglobin breakdown products.

Occlusion in the lungs may develop in the form of pulmonary embolism. This leads to increased pressure in the pulmonary circulation and attacks of cardiac asthma with pulmonary edema.

Thrombosis of mesenteric vessels leads to severe abdominal pain and possible intestinal necrosis with the development of peritonitis and intestinal obstruction.

The risk of gallstone disease is increased, as a lot of bilirubin pigment is formed. Irregular eating aggravates the problem.

Women experience reproductive dysfunction, expressed in menstrual dysfunction, early and late abortions due to vascular thrombosis. Menstruation in girls with sickle cell disease tends to be delayed.

A genetic analysis is carried out to detect the sickle cell anemia gene. It is necessary to determine the homo- or heterozygosity of the disease.

To diagnose the hemolytic process, a biochemical blood test is performed for indirect (unconjugated) bilirubin, a stool test for stercobilin, a urine test for urobilin, and hematuria.

If the shape of the bones changes, an x-ray examination is performed to detect avascular necrosis or osteomyelitis.

Differential diagnosis is made with rickets, which may cause changes in the bones of the spine. Other blood diseases are thalassemia.

Treatment

In order to treat septic complications of the disease, antibacterial drugs are used. Prophylactic vaccination against Pneumocystis pneumonia.

Maintaining the normal function of internal organs in conditions of oxygen starvation is carried out by taking Mexidol, Mildronate. Taufon drops are used for the eyes to improve microcirculation.

Often with splenomegaly caused by this type of anemia, tuberculosis occurs, which requires special treatment.

Conclusion

The disease is transmitted genetically, inheritance is an autosomal recessive type. Treatment is to reduce blood viscosity with antiplatelet agents and avoid oxygen starvation.

Sickle cell anemia

Sickle cell anemia is a disease that develops against the background of a gene mutation. A hereditary disease leads to changes in the shape and structure of red blood cells. Altered blood cells lead to anemia and many other negative consequences. The patient suffers from improper development of the skeleton, oxygen starvation of the brain, and crises. The disease cannot be cured, but there are measures to prevent it. Therapy is prescribed symptomatically.

What is sickle cell anemia

What happens in the body of a patient with sickle cell anemia? The structure of red blood cells is disrupted; as a result of gene mutation, they change shape. Modified cells lead to blockage of blood vessels and anemia. Sickle-shaped cells, type S red blood cells, are to blame for these phenomena. The medical designation is HbS.

Sickle anemia is classified as a chronic incurable disease. This disease can be treated symptomatically: at the onset of an attack, immediate therapy is carried out using nutrients and devices for saturating tissues with oxygen.

The disease has several forms. The most dangerous is homozygous. Patients with this form usually die before the age of 10 years. Carriers of another form - heterozygous - can live a full life, but suffer from side symptoms and are more susceptible to crises, miscarriages, infectious and viral diseases; they often develop thrombocytosis.

Causes

Sickle cell anemia is a genetic disease. It appears in children whose parents are carriers of the erythrocyte S gene. The disease is considered recessive, that is, it is suppressed when healthy genes are present. If only one of the parents is a carrier of the gene, and the other is healthy, then the probability of the child becoming ill is 25%. If both parents have the genes, the baby will suffer from heterozygous anemia. This is anemia in which there is only one diseased gene, and the concentration of mutated red blood cells is reduced.

If the child’s gene type in the direction of red blood cells consists entirely of mutated genes, then he suffers from a homozygous form of the disease. This form is not treatable, and patients with it mostly die in childhood.

Families where one or both spouses come from India, Central Asia, and adjacent territories should be afraid of the disease. The disease originated from these areas. The appearance of S type red blood cells can be associated with a greater risk of malaria infection in the areas considered. Patients with sickle-shaped blood cells are not susceptible to this disease because the pathogen cannot integrate into the long, curved red blood cell.

The carrier may also be a person of European appearance.

The causes of sickle cell anemia can also be secondary. These are the factors that cause not the appearance of the disease, but its development. Carriers of the gene may not show symptoms of the disorder until they are exposed to:

These are provoking factors that must be avoided to prevent deviation.

Genetics

The mode of inheritance of sickle cell anemia is recessive. You can consider it using the example: “AA+Aa=Aa/AA”. Here the anemia gene is a, that is, recessive, which will manifest itself fully only in the presence of a second similar gene. However, in the presented example, a completely healthy parent and carrier of the disease gives birth to a child with incomplete possession of the harmful gene. This is a case of heterozygous disease. You can find out more about it in the section below.

With a recessive type of inheritance, the risk of transmitting the disease is not one hundred percent. It can be transmitted in the following cases.

Both parents are owners of the aa genes (100% probability).
One of the parents is a carrier of the aa genes, the other is Aa (the probability of a heterozygous form is 100%, homozygous is 75%).
Both parents are carriers of the Aa genes (the probability of a heterozygous form is 50%, a homozygous form is 25%, and the birth of a healthy child is 25%).
One of the parents has the genotype AA, the other Aa (the homozygous form is impossible, the probability of heterozygous is 25%).

These data are used to predict the transmission of the disease from parents to children when planning pregnancy. The only way to reduce the risk of the disease is to find another partner who is not a carrier of the gene.

Heterozygotes

Inheritance of sickle cell anemia can be heterozygous. How is this form of the disease different? The patient has both standard and mutated red blood cells. In this case, the concentration of each cell varies. Basically, there are fewer mutated cells, and a person does not notice his illness until severe physical stress or hypoxia: 2 out of 3 newborn children will not show the symptoms of sickle cell anemia characteristic of children until puberty.

The heterozygous form develops when only half of the harmful gene is inherited. Patients with this form are prone to the following problems:

late menstruation;
miscarriages;
early birth;
diseases of the heart and liver, spleen;
reduced immunity.

To prevent crises, such patients must follow preventive measures.

Pathogenesis or what happens during illness

What is the pathogenesis of sickle cell anemia?

In the polylipid beta chain of the erythrocyte, glutamic acid is replaced by valine.
As a result of the change in structure, the red blood cell becomes 100 times less soluble; a person suffers from increased destruction of red blood cells.
Reduced solubility, coupled with the constant circulation of red blood cells through the vessels, leads to the formation of a special cell shape. They become sickle-shaped.
Red blood cells carrying hemoglobin s do not pass well through the vascular tract due to a change in shape. They cause blood clots and crises. Some patients cannot prevent blood clots.
As a result of constant blockage of blood vessels, body tissues suffer. Necrosis and bone structure disorders develop. Mental retardation is likely due to weakened brain nutrition and lack of oxygen.

There are no normal red blood cells (with hemoglobin type A) in patients with the homozygous form of the disease. Therefore, they suffer from a chronic type of illness. The brain of such patients usually remains at the level of a 2-3 year old child, and speech centers do not develop.

As a result of constant cell starvation due to sickle cell anemia, the body undergoes irreversible structural changes. The result of such disorders is the death of the patient (in homozygotes). Heterozygous patients suffer from the disorder throughout their lives, but can maintain normal activities.

Diagnostic methods

Sickle cell anemia can be diagnosed at any stage of development: before birth, in the neonatal period, in childhood or adulthood. The main diagnostic method is blood tests:

blood smear from the periphery;
biochemical analysis - biochemistry for sickle cell anemia allows you to determine the solubility of red blood cells;
hemoglobin electrophoresis;
prenatal diagnosis.

The descendant of a carrier of the disease must be diagnosed both at birth and when planning a child.

Prenatal screening

Sickle cell anemia can be prevented at the planning stage. Expectant parents who are carriers of the sickle cell gene must undergo a genetic test. It will identify the likelihood of having a sick child. Next, you need to consult with pregnancy planning specialists. Diagnosis of sickle cell disease in the prenatal period is carried out by taking DNA strands from chorionic villi.

Neonatal screening

The use of tests for anemia in newborns is becoming widespread. They are already included in the mandatory screening test program in Western countries. To determine the shape of the red blood cell, electrophoresis is performed. It allows you to differentiate HbS, A, B, C cells. The solubility of red blood cells in blood vessels at an early age cannot yet be tested.

Symptoms of the disease

During the period of the height of the disease, symptoms of oxygen starvation are pronounced. A person suffers from dizziness, loss of consciousness, and decreased sensitivity of the nervous system. But there are more specific signs of anemia:

pain in the liver, heart, kidneys and spleen;
scarring and necrosis of organs;
a person becomes more susceptible to vascular thrombosis;
immunity decreases;
spleen crisis;
bones grow incorrectly;
various crises;
the skin acquires a yellowish tint;
signs of exhaustion are visible, although the person eats normally.

The patient’s condition is constantly deteriorating, since even when the main problem of the disease (blockage of blood vessels) is relieved, the tissues still manage to undergo starvation and necrosis.

What is a spleen crisis

During crises, a temporary cessation of blood circulation in some parts of the body may occur. This especially affects the spleen and liver. These organs begin to scar and enlarge. A severe enlargement of the spleen due to malnutrition or another chronic problem is called a crisis.

The manifestations of the crisis are as follows:

frequent hiccups;
problems when eating (the organ does not allow the stomach to stretch much, resulting in only a small portion being eaten);
pain on the left side of the abdomen.

The phenomenon has a medical name - splenomegaly.

Exacerbations

With sickle cell anemia, children and adults experience periodic exacerbations - crises. They are characterized by specific features. Symptoms of exacerbation of sickle cell anemia.

With a vaso-occlusive crisis, there is severe bone pain and tachycardia. Fever and increased sweating develop. This is the most common type of exacerbation.
During sequestration crises, the liver and spleen suffer. Pain appears in these organs, and the risk of valve collapse or heart attack is high.
With sickle chest syndrome (a consequence of vaso-occlusive crisis), bone marrow infarction and respiratory failure develop. It is the leading cause of death in adult patients.
During applastic crisis, hemoglobin sharply decreases. This condition can be controlled by the body.

In case of crises, it is necessary to urgently seek medical help due to the high probability of death.

Complications

Complications of sickle cell disease occur due to lack of nutrition of bones and tissues. Main consequences:

visual impairment;
frequent respiratory diseases;
irregular menstruation;
disorders of mental and speech development;
infections;
sharp abdominal pain;
tachycardia;
permanent enlargement of the spleen.

Acute forms of complications can lead to death.

Treatment of the disease

Treatment of sickle cell anemia is carried out only as part of eliminating the symptom. The genetic disease is incurable, so it is impossible to completely get rid of it. In the future, there may be a cure through gene therapy, but this treatment is currently only in the development stage. In severe forms, a stem cell transplant may be offered to save the patient’s life, but this action is associated with a high risk of death (5-10%).

The main treatment measures are as follows:

blood transfusions;
restorative treatment;
use of symptomatic drug therapy.

Medicines

People with sickle cell disease can take symptomatic medications to combat signs of the disease. The main type of treatment is opioid analgesics. They are administered intravenously on an outpatient basis. Medications such as morphine are suitable. Administration of meperidine should be avoided. At home, only weak analgesics are acceptable.

Blood transfusions

With sickle cell anemia, especially during crises, hemoglobin drops sharply. To prevent this phenomenon and restore hemoglobin levels, blood transfusions are prescribed. Their effectiveness has not yet been fully proven. The procedure is prescribed when the hemoglobin level in the blood is less than 5 g per liter.

General restorative treatment

Patients suffering from a mild form of the disease or susceptible to its onset are prescribed general strengthening of the body. It includes comprehensive procedures to strengthen the immune system, improve nutrition and the vascular system of the body. Physical exercises are prescribed to help saturate the blood with oxygen. Preventive courses of antibiotics and folic acid injections are prescribed. Any infection is fought with antibiotics. The remaining strengthening actions can be attributed to prevention, which is described in more detail below.

Prevention

Disease prevention includes measures aimed at preventing crises. In patients with the homozygous form, these procedures are useless: blockage of blood vessels and adverse consequences occur in any case, since the concentration of sickle erythrocytes is superior to standard ones. Preventive measures are aimed at reducing the risk of crises in patients with the heterozygous form.

avoidance of increased physical activity;
restriction on altitude of residence (not in the mountains);
restrictions in places of stay (excursions to the mountain, visits to attractions-towers with a sharp drop, base jumping, etc. are prohibited);
avoiding air travel.

These actions are aimed at preventing hypoxia, a syndrome that occurs when pressure changes. Other measures are related to immune and physiological stress on the heart:

you need to avoid infections: wash your hands thoroughly, maintain hygiene;
during periods of exacerbation of respiratory diseases and epidemics, it is imperative to take medications to improve immunity;
children are prescribed additional vaccinations: against meningitis and pneumococcal infection;
It is necessary to maintain a drinking regime to avoid the development of dehydration.

With a proper lifestyle and good nutrition, the prognosis for heterozygous carriers is positive.

The prognosis for patients with the homozygous form is negative. As a preventative measure, periodic splenectomy sessions are used, and regular visits to a hematologist are required.

Sickle cell anemia

Sickle cell anemia is a hereditary hematological disease that is characterized by impaired formation of hemoglobin chains in red blood cells.

general information

Sickle cell anemia is the most severe form of hereditary hemoglobinopathy. The disease is accompanied by the formation of hemoglobin S instead of hemoglobin A.

The abnormal protein has an irregular crystal structure and special electrical characteristics. Red blood cells that carry hemoglobin S take on an elongated shape resembling the outline of a sickle. They quickly break down and can clog blood vessels.

Sickle cell anemia is common in African countries. Men and women suffer from the disease equally. People with this pathology and its asymptomatic carriers are practically immune to various strains of the malaria pathogen (Plasmodium).

Causes

Sickle cell anemia is caused by an inherited gene mutation. Pathological changes occur in the HBB gene, which is responsible for the synthesis of hemoglobin. As a result, a protein is formed with a damaged sixth position of the beta chain: instead of glutamic acid, it contains valine.

The mutation in sickle cell anemia does not lead to disruption of the formation of hemoglobin molecules as a whole, but provokes a change in its electrical properties. Under conditions of hypoxia (lack of oxygen), the protein changes its structure - it polymerizes (crystallizes) and forms long strands, that is, it turns into hemoglobin S (HbS). As a result, the red blood cells that carry it are deformed: they lengthen, become thinner and take on the appearance of a crescent (sickle).

In humans, sickle cell anemia is inherited in an autosomal recessive manner. For the disease to manifest itself, a child must receive the mutant gene from both parents. In this case, they speak of the homozygous form. Such people have only red blood cells with hemoglobin S in their blood.

If the altered HBV gene is present in only one of the parents, then sickle cell anemia is also inherited (heterozygous form). The child is an asymptomatic carrier. His blood contains the same amount of hemoglobin S and A. Under normal conditions, there are no symptoms of the disease, since normal protein is sufficient to maintain the functions of red blood cells. Pathological manifestations can occur with oxygen deficiency or severe dehydration. An asymptomatic carrier of sickle cell anemia is able to pass on the mutant gene to their children.

Pathogenesis

In sickle cell anemia, the causes of negative changes in the body are the dysfunction of red blood cells. Their membrane is highly fragile, so they have low resistance to lysis. Red blood cells with hemoglobin S are unable to transport sufficient oxygen. In addition, their plastic capabilities are reduced and they cannot change their shape when passing through capillaries.

Changes in the properties of sickle cells lead to the following pathological processes:

The lifespan of red blood cells decreases, they are actively destroyed in the spleen;
deformed red blood cells fall out of the liquid part of the blood in the form of sediment and accumulate in the capillaries, clogging them;
the blood supply to tissues and organs is disrupted, resulting in chronic hypoxia;
the formation of red blood cells in the kidneys is stimulated and the erythrocyte germ of the bone marrow is “over-stimulated”

Symptoms

Symptoms of sickle cell anemia vary depending on the patient's age and associated factors (social conditions, acquired diseases, lifestyle). Depending on the pathological mechanisms, the signs of the disease are divided into several groups:

associated with increased destruction of red blood cells;
caused by blockage of blood vessels;
hemolytic crises.

Sickle cell anemia in children does not appear until 3-6 months of age. Symptoms such as:

soreness and swelling of the hands and feet;
muscle weakness;
limb deformity;
late development of motor skills;
pallor, dryness, and decreased elasticity of the skin and mucous membranes;
jaundice due to the intense release of bilirubin as a result of the breakdown of red blood cells.

Before age 5 or 6, children with sickle cell disease are especially at risk of severe infections. This is due to impaired functioning of the spleen due to blockage of its vessels with red blood cells. This organ is responsible for purifying the blood from infectious agents and forming lymphocytes. In addition, deterioration of blood microcirculation leads to a decrease in the barrier abilities of the skin, and microbes easily penetrate the body. The task of parents is to promptly seek help when symptoms of infectious diseases appear in order to prevent sepsis.

As the child grows older, the following signs associated with chronic hypoxia appear:

increased fatigue;
frequent dizziness;
dyspnea;
delay in physical and mental development, as well as in puberty.

The disease does not prevent childbearing, but pregnancy is accompanied by an increased risk of complications.

Due to blockages in small blood vessels, adolescents and adults with sickle cell disease experience:

periodic pain in various organs;
skin ulcers;
visual impairment;
heart failure;
renal failure;
changes in bone structure;
swelling and tenderness of the joints of the limbs;
paresis, decreased sensitivity, and so on.

Severe infectious pathology, overheating, hypothermia, dehydration, physical activity or elevation can cause a hemolytic crisis. Its symptoms:

a sharp drop in hemoglobin levels;
fainting;
hyperthermia;
darkening of urine.

Diagnostics

Clinical symptoms suggest that a person has sickle cell anemia. But since they are characteristic of many conditions, an accurate diagnosis is made only on the basis of hematological studies.

general blood test - shows a decrease in the level of red blood cells (less than 3.5-4.0x10 12 / l) and hemoglobin (lower / l);
blood biochemistry - demonstrates an increase in the level of bilirubin and free iron.

“wet smear” - after blood reacts with sodium metabisulfite, red blood cells lose oxygen, and their sickle shape becomes visible;
processing a blood sample with buffer solutions in which hemoglobin S is poorly soluble;
hemoglobin electrophoresis - analysis of hemoglobin mobility in an electric field, which allows you to determine the presence of deformed red blood cells, as well as differentiate a homozygous mutation from a heterozygous one.

In addition, when diagnosing sickle cell anemia, the following is carried out:

Ultrasound of internal organs - allows you to detect an enlargement of the spleen and liver, as well as circulatory disorders and heart attacks in the internal organs;
radiography - shows deformation and thinning of the skeletal bones, as well as expansion of the vertebrae.

Treatment

Treatment for sickle cell disease is aimed at eliminating symptoms and preventing complications. Main directions of therapy:

correction of red blood cell and hemoglobin deficiency;
elimination of pain syndrome;
removal of excess iron from the body;
treatment of hemolytic crises.

To increase the level of red blood cells and hemoglobin, donor red blood cells are transfused or hydroxyurea is administered, a drug from the group of cytostatics that helps increase the hemoglobin content.

Pain syndrome in sickle cell anemia is relieved with the help of narcotic analgesics - tramadol, promedol, morphine. In the acute phase they are administered intravenously, then orally. Excess iron is removed from the body through drugs that have the ability to bind this element, for example, deferoxamine.

Treatment of hemolytic crises includes:

oxygen therapy;
rehydration;
the use of painkillers, anticonvulsants and other drugs.

If a patient develops an infectious disease, antibiotic therapy is administered to prevent severe damage to internal organs. Typically, amoxicillin, cefuroxime and erythromycin are used.

People with sickle cell disease should follow certain lifestyle recommendations, including:

stop smoking, drinking alcohol and drugs;
do not rise to a height above 1500 m above sea level;
limit heavy physical activity;
avoid extremely high and low temperatures;
drink enough fluid;
include foods high in vitamins in the menu.

Forecast

Sickle cell anemia is an incurable disease. But thanks to adequate therapy, the severity of its symptoms can be reduced. Most patients live longer than 50 years.

Possible complications of the disease leading to death:

severe bacterial pathologies;
sepsis;
stroke;
cerebral hemorrhage;
serious disturbances in the functioning of the kidneys, heart and liver.

Prevention

Preventative measures for sickle cell anemia have not been developed, since it is genetic in nature. Couples with a family history of the disorder should consult a geneticist when planning a pregnancy. After examining the genetic material, the doctor will be able to determine the presence of mutant genes in future parents and predict the likelihood of having a child with sickle cell anemia.

Sickle cell anemia (SCA) - hemoglobinopathy, drepanocytosis, hemoglobinosis SS or “molecular disease”, as Pauling called it, who together with another researcher (Itano) in 1949 discovered that the hemoglobin of patients with this severe illness differs in physicochemical characteristics from normal hemoglobin. In the same year, it was precisely established that the disease is inherited from generation to generation, but has an uneven geographical distribution.

The disease itself was first described back in 1910, and this was done by a doctor from America named Herrick. He, examining a young black man living in the Antilles, discovered severe anemia and pronounced yellowness of the sclera and mucous membranes.

The doctor was interested in the disease because he had never seen anything like it before, so he decided to study and describe it. Upon closer examination of the patient's blood, Herrick saw unusual red blood cells that bore a striking resemblance to a sickle. Such red blood cells began to be called drepanocytes, and the pathology was called sickle cell anemia.

Causes

The causes of this serious illness lie in the physicochemical properties (solubility, erythrophoretic mobility) of hemoglobin, but not that which is recognized as normal (HbA), capable of providing respiration and nutrition to tissues. It's all about the abnormal hemoglobin HbS, which was formed as a result of a mutation and is present in patients with this disease instead of the normal one - HbA. By the way, hemoglobin S became the first described and deciphered red blood pigment of all defective hemoglobins (there are other abnormal Hb, for example, C, G San Jose, which, however, do not give such a severe pathology).

The hemoglobin contained in the red blood cells of patients with sickle cell anemia has, at first glance, very small differences. It’s just a substitution of one amino acid for another in the 6th position of the β-chain (glutamic acid is located in the normal position, and valine is located in the abnormal position). However, glutamic acid is acidic, and valine is neutral, which leads to a significant change in the charge of the molecule, and, consequently, a change in all the characteristics of the red blood pigment.

abnormal structure of the amino acid chain of hemoglobin S

Since the disease is inherited from parents to children, it was natural to assume that the cause of such a defect is some gene that arose during a pathological mutation. (gene mutations occur constantly - both beneficial and harmful). Research at the genetic level has shown that this is indeed the case. The anomaly has found its place in the structural gene of the beta chain; because of it, one base is replaced in the 6th amino acid by another (adenine to thymine). However, to make it easier for the reader to understand, there is a need to very briefly explain some of the terms used by geneticists, otherwise the reasons for the appearance of such a severe pathology will remain unclear. Thus, the sequence of amino acids in a protein (and hemoglobin, as we know, is a protein) encodes 3 nucleotides, which are controlled by certain genes and are called coding trinucleotides, codons or triplets.

In this case it turns out that:

The gene, untouched by the mutation (triplet in healthy people - GAG), ensures the formation of normal hemoglobin (HbA);
In patients, as a result of a point mutation, the appearance of a pathological gene for sickle cell anemia, adenine is replaced by thymine and the encoding trinucleotide is already GTH.

Due to such changes at the genetic level, such bad consequences arise as:

Replacement of negatively charged glutamic acid with neutral valine;
A change in the charge of the HbS molecule, and, therefore, in the physicochemical properties of hemoglobin.

Inheritance of hemoglobinosis SS occurs according to Mendel's laws (in this case, the pathology is inherited in an autosomal recessive manner with incomplete dominance). If a child received the sickle cell anemia gene from both his father and mother, he becomes homozygous for this trait (“homo” - similar, doubled, paired, that is, SS), his red blood pigment will look like HbSS and soon after birth he will have he will develop a serious illness. You will be luckier if the baby turns out to be heterozygous (with hemoglobin HbAS), because since this disease is a homozygous form of HbS, the pathology will be hidden under normal conditions, but at the same time, the sickle cell anomaly will not go away either. It can make itself felt in a future generation if it encounters a gene that carries similar information. Or it will manifest itself in the carrier of the sickle cell anemia gene if the person finds himself in an extreme situation (lack of oxygen, dehydration).

inheritance of sickle cell anemia (autosomal recessive type with incomplete dominance)

Why do red blood cells acquire such an unusual shape?

Back in the 20s of the last century, it was established that the acquisition of a sickle shape by red blood cells is associated with a lack of oxygen. A deficiency of such an element necessary for the normal functioning of the body leads to the following:

In HbSS, hydrophobic bonds are formed between the residues of valine, which is foreign to normal hemoglobin;
The hemoglobin molecule begins to “fear” water;
Linear crystallization of HbSS molecules is formed;
Crystals inside hemoglobin S disrupt the structural structure of the membranes of red blood cells, causing the latter to take on a sickle shape.

It should be noted that not all cells permanently lose their natural appearance. For individual blood cells, this process turns out to be reversible, which is why normal red blood cells are also found among sickle-shaped forms in blood smears.

Red blood cells can “have time” to return to normal when the partial pressure of O2 increases. The same red blood cells that were “noticed” by the mononuclear phagocyte system die prematurely and are removed from the community. This is how anemia develops, which, by the way, is characterized not only by a tendency to thrombotic episodes, but also by an increased rate of destruction of blood cells carrying abnormal hemoglobin (especially if irreversible sickling occurs). Such red blood cells do not live long. If normal cells can circulate in the blood for up to 3.5 months, then sickle cells die within 15 – 20 – 30 days. Anemia requires the formation of new red blood cells, the number of young forms - reticulocytes - increases in the blood, erythroid hyperplasia of the bone marrow develops, accompanied by changes in the skeletal system (skeleton, skull).

Sickle-shaped blood cells become stubborn and lose their unique properties (elasticity, ability to deform and penetrate into the narrowest vessels). In addition, it becomes difficult to move through the capillaries and the movement of other blood cells. This leads to thickening of the blood, an increase in its viscosity, disruption of blood flow, especially in small vessels, and stagnation occurs in the microcirculatory bed. The consequence of such transformations will be oxygen starvation of tissues, and the formation of even more defective red blood cells– a vicious circle arises, for which the following signs are very characteristic:

Slowing of blood flow (especially in the microvasculature);
Focal circulatory disorders (infarctions) in the skeletal system and internal organs, caused by thrombosis of small vessels with sickle-shaped blood cells;
Chronic hemolytic hyperplasia of the bone marrow;
Episodic crises accompanied by abdominal pain, as well as joint and muscle pain.

The most vulnerable when blood flow slows down are those organs that especially need oxygen. The destruction of sickle-shaped red blood cells in the blood vessels of the spleen often ends in thrombosis of these vessels, which, in turn, can lead to recurrence. The result of this is atrophy of the spleen.

Normal hemoglobin and sickle cell

Sometimes sickle-shaped red blood cells are very scary for doctors, appearing in people who have completely normal hemoglobin and never heard of such a serious illness as SKA. When does this happen? The fact is that the formation of sickle-shaped forms can be influenced by a number of extra-erythrocyte factors:

Low values – they help remove oxygen from the blood, which provokes a change in the shape of red blood cells;
Increased body temperature (increases oxygen absorption);
(the blood is not sufficiently saturated with oxygen);
Pregnancy and childbirth.

Of course, in these cases, acquiring a sickle shape, red blood cells also lose their properties, the viscosity of the blood also increases and blood flow in the blood becomes more difficult. However, extra-erythrocyte factors (if the erythrocytes contain normal hemoglobin) can be somehow combated using adequate therapy, or they can go away on their own if these were temporary circumstances (fever, pregnancy). In the case of sickle cell anemia, all of the above factors will further aggravate the situation and the vicious circle will be completed.

Prevalence of sickle cell anemia gene

A pathology such as sickle cell anemia is unevenly distributed across the planet. Basically, this disease “selects” the tropical and subtropical climate of the Western Hemisphere. Abnormal hemoglobin S is most common in Africa (Uganda, Cameroon, Congo, Gulf of Guinea coast, etc.), so some consider HbS to be a specific “African” hemoglobin. However, this is not entirely correct.

Often, an abnormal form of red blood pigment can be found in Asia and the Middle East. The sickle cell anemia gene is also attracted by the warm climate of some European countries, for example, Greece, Italy, Portugal (in some areas its incidence reaches 27 - 32%).

But the peoples of the north and north-west of Europe can rest easy for now, here abnormal hemoglobin HbS is an extreme rarity. Meanwhile, we should not forget about the active migration of recent years. Of course, heterozygotes travel by boat to Europe; a person with sickle cell anemia is unlikely to travel. But these people, having settled in a new place, will get married and have children, that is, the appearance of homozygotes and the disease itself becomes possible. In the end, interethnic marriages cannot be ruled out, and then the prevalence of hemoglobinosis SS around the globe may take on different shapes.

The disease (homozygous form of HbS), as a rule, debuts between 3 and 6 months of a child’s life, usually proceeding like crises and progressing, delaying and greatly changing the overall development of the little person. Children die at the age of 3–5 years, some live up to the age of 10, and only a few in Africa manage to reach adulthood. True, in economically developed countries (Great Britain, Germany, USA, etc.) the disease may have a slightly different course, because the nutrition and treatment that residents of these regions can afford improve both the quality of life and its duration. In the United States, there have been cases of sickle cell anemia patients celebrating both their 50th and 60th birthdays.

Sickle cell anemia

What is this serious disease? What changes does it bring to the body?

It turned out that the symptoms of the disease are so diverse that the disease “was awarded the title of the Great Imitator.”

Sickle cell anemia, since it manifests itself soon after birth, is considered a pathology of childhood. Very rarely, the disease debuts in adolescents and, even more so, in adults, albeit young people. The presence of SCD in middle age is an exception that can be found in a wealthy family living, for example, in the USA. However, in the same Africa up to 50% of babies die in the first year of life, that is, almost immediately after the onset of symptoms.

Some researchers conditionally divide the course of the disease into three periods:

From 5-6 months of life to 2-3 years;
From 3 to 10 years;
Over 10 years old (protracted form).

It should be noted that newborns, as a rule, do not have any symptoms of the disease (the presence of the septic cell anemia gene can be judged only after genetic analysis). And so, the red blood cells of infants are biconcave discs, as they should be, the child is outwardly healthy. This occurs due to fetal hemoglobin, which, however, will soon begin to be replaced by hemoglobin S. Around six months, fetal Hb will finally leave the red blood cells and then the development of the disease will begin if the baby got the sickle cell anemia gene from both parents. The sequence of amino acids in globin will be encoded by the triplet GTG (instead of GAG), which will cause the synthesis of pathological hemoglobin and changes in the shape of red blood cells. It is simply impossible to direct this process in the right direction at this level, since the sickle cell anemia gene in a homozygous state will not allow this.

In young children, after fetal hemoglobin leaves and is replaced by HbSS, the first signs of the disease appear:

Loss of appetite;
Increased susceptibility to various infections;
Irritability and restlessness;
Yellowness of the skin and visible mucous membranes;
Enlarged spleen;
Slowdown in overall development.

But since the disease has three periods and is called the "great imitator", it may be interesting for the reader to study it in more detail.

First signs of illness

Sometimes in the first period symptoms appear and no further signs of pathology follow. But something like this, when GA is the only sign of the disease, happens very rarely. However, anemia does not even determine the severity of the disease. Her Patients tolerate it well and do not particularly complain about their health. This phenomenon can be explained by the fact that the dissociation curve of pathological hemoglobin is shifted to the right (compared to a similar curve of normal hemoglobin), and the affinity for O 2 is reduced, so hemoglobin more easily releases oxygen to tissues.

The classic version of the first period has three main symptoms:

Painful swelling of the bones of the limbs;
The appearance of hemolytic crises (the most common cause of death);

At the first stage of the disease, the inflammatory nature of the swelling, spreading to various parts of the osteoarticular system (feet, legs, hands, often joints), causes intense pain. The morphology of this symptom lies in the appearance of sickle-shaped blood cells that provide nutrition to the tissues.

The second (most terrible and dangerous) manifestation of the pathological condition is hemolytic crisis, which in 12% of patients acts as the debut of the disease. The cause of a hemolytic crisis is often past infections (measles, pneumonia, malaria). The addition of a crisis to the inflammatory-infectious process greatly aggravates the course of the disease and worsens the patient’s condition, which is noted during laboratory blood tests:

Hemoglobin drops rapidly;
The total number of red blood cells also decreases, because sickle cells do not live long, and there are practically no normal red cells in the smear;
The hematocrit decreases sharply.

Clinically, all this is manifested by chills, a significant increase in body temperature, agitation, and an increase in anemic coma. Unfortunately, most children die within a few hours (from the start of such violent events). However, if the patient was able to be “pulled out”, then in the future one can expect changes in laboratory parameters (increased unconjugated bilirubin and urobilin in the urine) and an intense yellow coloration of the skin (of course, if the patient is of the white race), sclera and visible mucous membranes.

Sometimes other crises take place in the first period - aplastic, which are characterized by bone marrow hypoplasia, causing severe anemia and a decrease in young forms of red blood cells (reticulocytes) in the blood. Aplastic crises most often occur against the background of infectious diseases and are more typical for the African continent, since there is a real “rampant” of infections before the rainy season. Symptoms of aplastic crisis: weakness, dizziness, sudden deterioration in condition, development of heart failure.

Meanwhile, these are not all the crises that can await a sick child. Children may experience sequestration crises, the cause of which is stagnation of blood in the liver and spleen, although obvious signs of hemolysis may be absent. But the symptoms of such a crisis very eloquently indicate the serious condition of the baby:

Rapid enlargement of the spleen and liver;
Severe pain in the abdomen, so the child’s knees are bent and pressed to the stomach;
Jaundice becomes more pronounced;
Hemoglobin level drops to 20g/l;
Often there is collapse.

The cause of such a crisis in most cases is pneumonia.

Thus, the disease described is characterized by two main types of crisis:

Thrombotic or painful (rheumatoid, abdominal, combined);
Anemic (hemolytic, aplastic, sequestration).

And finally, another important sign present at the onset of the disease is pulmonary infarctions, which usually recur and result from thrombosis of the pulmonary vessels by abnormal blood cells. Symptoms (sudden chest pain, shortness of breath, cough) indicate a serious condition of the patient, although, it should be noted, death in such cases occurs relatively rarely.

Second phase

At the second stage of disease development, the first role goes to chronic hemolytic anemia, which can come immediately after a hemolytic crisis or develop gradually, as well as new symptoms caused by thrombosis of internal organs. Symptoms of the second period are, in general, typical:

Weakness, fatigue;
Paleness of the skin with the presence of some yellowness;
The lifespan of red blood cells is no more than 1 month;
Bone marrow hyperplasia;
Changes in the skeletal system (“tower” skull, curved spine, thin long limbs);
Spleno- and hepatomegaly (due to which the abdomen is greatly enlarged), liver damage (caused by ischemia followed by necrosis of hepatocytes), occurring as hepatitis, increased hemolysis with secondary hemochromatosis, cholangitis, calculous cholecystitis (gallbladder stones). In most cases, the outcome is the development of cirrhosis;
Suffering from the cardiovascular system: enlarged heart, rapid pulse, changes in the ECG. A frequent consequence of HA is heart failure, the cause of which some authors believe is myocardial ischemia, others - thrombosis of the pulmonary vessels and cardiac dystrophy (heart damage in other cases leads to diagnostic error, since symptoms may indicate rheumatic heart disease, especially since such patients have joint changes);
Thrombosis of the renal vessels, heart attacks and bleeding (macro- and microhematuria) leading to the development of renal failure;
Neurological symptoms resembling diffuse encephalitis and occurring against the background of vascular disorders (headache, dizziness, convulsions, paresthesia, cranial nerve palsies, hemiplegia);
Visual disturbances up to blindness (retinal detachment, fundus changes, hemorrhages);
Formation of trophic ulcers;
Abdominal crises (caused by thrombosis of small vessels of the mesentery), which due to severe pain can result in shock and death of the patient.

Most children with sickle-shaped anemia die in the second period. The cause of death is usually: , . The already severe course is greatly aggravated by infections, against which children, as a rule, do not even survive to the age of 5.

Protracted form

Patients with SCA very rarely live for more than 10 years, but with improvements in living conditions and the quality of medical care, some patients reach adulthood. However, it should be noted that these people are not entirely full-fledged, they are infantile, asthenic, and poorly developed in every sense. As a rule, throughout life they are accompanied by hemolytic anemia and asplenia as a result of autosplenectomy (splenic infarctions lead to scar formation, shrinkage of the organ and a decrease in its size). Due to the incompetence of the spleen, the formation of immunoglobulins is inhibited, which greatly affects the immune system - any infection can lead to death.

During this period, abdominal crises and neurological disorders are common, which lead to increased hemolysis and jaundice.

Pregnancy in women who survive to puberty is very difficult and ends in miscarriage or stillbirth. The woman herself also often dies, since severe anemia develops during pregnancy, followed by shock, coma and death.

Treatment

There is simply no such treatment that would save a person from a serious illness once and for all. If heterozygotes (HbAS), that is, carriers, can be recommended to adhere to certain rules (don’t drink, don’t smoke, don’t go to the mountains, don’t overload yourself with hard work so that pathological hemoglobin “sits quietly” in red blood cells), then homozygotes (patients with SCA ) will require real treatment aimed at:

Combating anemia and improving the quality of red blood cells (erythrocyte mass, hydroxyurea capsules);
Elimination of pain syndrome (narcotic analgesics: promedol, morphine, tramadol);
Elimination of excess iron released from destroyed red blood cells (desferal, exjade);
Treatment of infectious diseases (antibiotics);
Preventing the formation and then decay of sickle-shaped blood cells (oxygen therapy).

In other cases, SCA requires surgical treatment. For example, kidney bleeding can be so long-lasting and intense that it is necessary to remove the bleeding section of the kidney or even the entire kidney. But sometimes surgical intervention is also unjustified when abdominal crises occur that mimic surgical pathology (appendicitis, cholecystitis, intestinal obstruction).

Sickle cell anemia is an example of a mutation. Sickle cell anemia: an inherited risk

Hereditary disease - sickle cell anemia: what is it?

Inheritance of sickle cell anemia

Sickle anemia: diagnosis and treatment

Sickle cell anemia - basic concepts

Reasons for development

Symptoms and signs

Therapy

Conclusion

Information about the disease

Causes of blood disease

The difference between a dominant type of inheritance and a recessive one

What triggers the development of anemia

Clinical picture and stages of the disease

How does the disease progress in children?

Diagnostic methods

Blood picture

Conservative treatment of the disease

Possible complications

Prevention measures

Sickle cell anemia

Sickle cell anemia

Causes of sickle cell anemia

Symptoms of sickle cell anemia

Complications of sickle cell anemia

Diagnosis and treatment of sickle cell anemia

Prognosis and prevention of sickle cell anemia

Sickle cell anemia: signs, causes, treatment

Sickle cell anemia

Causes

Symptoms

Treatment

Conclusion

Sickle cell anemia

What is sickle cell anemia

Causes

Genetics

Heterozygotes

Pathogenesis or what happens during illness

Diagnostic methods

Prenatal screening

Neonatal screening

Symptoms of the disease

What is a spleen crisis

Exacerbations

Complications

Treatment of the disease

Medicines

Blood transfusions

General restorative treatment

Prevention

Sickle cell anemia

general information

Causes

Pathogenesis

Symptoms

Diagnostics

Treatment

Forecast

Prevention

Causes

Why do red blood cells acquire such an unusual shape?

Normal hemoglobin and sickle cell

Prevalence of sickle cell anemia gene

Sickle cell anemia

First signs of illness

Second phase

Protracted form

Treatment

Video: sickle cell anemia in the “Live Healthy” program

Video: lecture on hemoglobin biochemistry + sickle cell anemia