Diagnosis and treatment of Minkowski-Shoffar anemia. Hereditary microspherocytosis (Minkowski-Choffard disease)

Hereditary spherocytosis (Minkowski-Choffard disease)- hemolytic anemia due to a defect cell membrane erythrocytes, the permeability of the membrane to sodium ions becomes excessive, and therefore the erythrocytes acquire a spherical shape, become brittle and easily undergo spontaneous hemolysis.

Hereditary spherocytosis is a widespread disease (2-3 cases per 10,000 population) and occurs in the majority of people ethnic groups, however, residents of northern Europe are more likely to get sick.

What provokes Hereditary spherocytosis (Minkowski-Choffard disease): Hereditary spherocytosis is transmitted in an autosomal dominant manner. As a rule, one of the parents shows signs of hemolytic anemia. Sporadic cases of the disease are possible (in 25%), representing new mutations.

Pathogenesis (what happens?) during Hereditary spherocytosis (Minkowski-Choffard disease): IN pathogenesis of hereditary spherocytosis 2 provisions are indisputable: the presence of a genetically determined anomaly of proteins, or spectrins, of the erythrocyte membrane and the eliminating role of the spleen in relation to spheroidally altered cells. All patients with hereditary spherocytosis a deficiency of spectrins in the erythrocyte membrane was noted (up to 1/3 of the norm), and in some cases there was a violation of their functional properties, and it was found that the degree of spectrin deficiency may correlate with the severity of the disease.

A hereditary defect in the structure of the erythrocyte membrane leads to increased permeability to sodium ions and accumulation of water, which in turn leads to excessive metabolic load on the cell, loss of surface substances and the formation of a spherocyte. Forming spherocytes, when moving through the spleen, begin to experience mechanical difficulty, lingering in the red pulp and being exposed to all types of adverse effects (hemoconcentration, pH changes, active phagocytic system), i.e. the spleen actively damages the spherocytes, causing even greater membrane fragmentation and spherulation. This is confirmed by electron microscopic studies, which made it possible to detect ultrastructural changes in erythrocytes (thickening of the cell membrane with its ruptures and the formation of vacuoles). After 2-3 passages through the spleen, the spherocyte undergoes lysis and phagocytosis. The spleen is the site of red blood cell death; whose life expectancy is reduced to 2 weeks.

Although erythrocyte defects in hereditary spherocytosis are genetically determined, conditions arise in the body under which these defects deepen and a hemolytic crisis occurs. Crises can be triggered by infections, some chemicals, mental trauma.

Symptoms of Hereditary spherocytosis (Minkowski-Choffard disease): Hereditary spherocytosis can manifest itself from the neonatal period, but more pronounced symptoms are found towards the end of preschool and at the beginning school age. Early manifestation of the disease predetermines more severe course. Boys get sick more often.

Hereditary spherocytosis is hemolytic anemia with a predominantly intracellular type of hemolysis, this also causes the clinical manifestations of the disease - jaundice, enlarged spleen, greater or lesser degree of anemia, a tendency to form stones in the gallbladder.

Complaints and clinical and laboratory symptoms are largely determined by the period of the disease. Outside hemolytic crisis there may be no complaints. With the development of a hemolytic crisis, complaints of increased fatigue, lethargy, headache, dizziness, pallor, jaundice, loss of appetite, abdominal pain, possible increase in temperature to high numbers, nausea, vomiting, frequent bowel movements, a terrible symptom - the appearance of convulsions.

The symptoms of a crisis are largely determined by anemia and depend on the degree of hemolysis.
At objective examination the skin and visible mucous membranes are pale or lemon yellow. In children with early manifestations hereditary spherocytosis may cause deformations of the skeleton, especially the skull (tower, square skull, the position of the teeth changes, etc.); Genetic stigmas are not uncommon. Patients are found varying degrees the severity of the change in cardiovascular system caused by anemia. Hepatolienal syndrome with a predominant enlargement of the spleen is characteristic. The spleen is dense, smooth, often painful, which is apparently explained by tension of the capsule due to blood filling or perisplenitis. The color of excrement at the time of crisis is intense. It should be noted that there are possible fluctuations in the size of the spleen: a significant increase during hemolytic crises and a decrease during periods of relative well-being.

Depending on the severity of hereditary spherocytosis clinical symptoms may be expressed slightly. Sometimes jaundice may be the only symptom for which the patient consults a doctor. It is to these individuals that Shoffar’s famous expression applies: “They are more jaundiced than sick.” Along with the typical classical signs of the disease, there are forms of hereditary spherocytosis, when hemolytic anemia can be so well compensated that the patient learns about the disease only after undergoing an appropriate examination.

Along with the most typical hemolytic crises in severe hereditary spherocytosis, aregenerative crises with symptoms of hypoplasia of the predominantly red sprout are possible bone marrow. Such crises can develop acutely with quite pronounced symptoms of anemia-hypoxia and are usually observed in children after 3 years of life. Aregenerative crises are short-term (1-2 weeks) and are reversible, unlike true aplasia.

Hereditary spherocytosis is complicated by the formation of pigment stones in the gallbladder and bile ducts, after 10 years, gallstones occur in half of patients who have not undergone splenectomy.

Diagnosis of Hereditary spherocytosis (Minkowski-Choffard disease): Diagnosis of hereditary spherocytosis placed on the basis of genealogical history, clinical data described above and laboratory research. The hemolytic nature of anemia is confirmed by normochromic normocytic anemia with reticulocytosis, indirect hyperbilirubinemia, the severity of which depends on the severity of hemolysis. Final diagnosis is based on the morphological characteristics of erythrocytes and a characteristic feature of hereditary spherocytosis - a change in the osmotic resistance of erythrocytes.

TO morphological features erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (average erythrocyte diameter
A characteristic feature hereditary spherocytosis is a decrease in the minimum osmotic resistance (persistence) of red blood cells - hemolysis begins at 0.6-0.7% NaCl (the norm is 0.44-0.48% NaCl). To confirm the diagnosis, a significant decrease in the minimum osmotic resistance is important. The maximum resistance can be increased (norm 0.28-0.3% NaCl). Among patients with hereditary spherocytosis, there are people who, despite obvious spherocytosis, normal conditions the osmotic resistance of red blood cells is normal. In these cases, it is necessary to examine it after preliminary daily incubation of red blood cells.

Course of hereditary spherocytosis wavy. Following the development of the crisis, clinical and laboratory parameters improve and remission occurs, which can last from several weeks to several years.

Differential diagnosis. Hereditary spherocytosis should be differentiated from other congenital hemolytic anemias. Family history data, examination of blood smears and osmotic resistance of red blood cells differ the most diagnostic value.

Among other diseases, hereditary spherocytosis is primarily differentiated from hemolytic disease newborns, at older ages - with viral hepatitis, autoimmune hemolytic anemia.

Treatment of Hereditary spherocytosis (Minkowski-Choffard disease): carried out depending on clinical manifestations illness and age of the child. During a hemolytic crisis, treatment is conservative. The patient must be hospitalized. Main pathological syndromes, developing during a crisis are: anemia-hypoxia, cerebral edema, hyperbilirubinemia, hemodynamic disorders, acidotic and hypoglycemic changes. Therapy should be aimed at eliminating these disorders according to generally accepted schemes. Erythromass transfusions are indicated only with the development of severe anemia (8-10 ml/kg). The use of glucocorticoids is inappropriate. Upon recovery from the crisis, the regimen and diet are expanded and prescribed choleretic drugs(mainly cholekinetics). In the event of the development of an aregenerative crisis, replacement blood transfusion therapy and stimulation of hematopoiesis are necessary (erythromass transfusions, prednisolone 1-2 mg/kg/day, vitamin B12 until the appearance of reticulocytosis, etc.).

By radical method treatment of hereditary spherocytosis is splenectomy, which ensures practical recovery, despite the preservation of spherocytes and a decrease in osmotic resistance (their severity decreases). Optimal age for the operation 5-6 years. However, age cannot be considered as a contraindication to surgical treatment. Severe hemolytic crises, their continuous course, aregenerative crises are indications for splenectomy even in children early age. There is an increased tendency to infectious diseases within 1 year after surgery. In this regard, a number of countries have adopted monthly administration of bicillin-5 for one year after splenectomy, or immunization with a pneumococcal polyvaccine is carried out before a planned splenectomy.

Forecast favorable for hereditary spherocytosis. However, in severe cases of hemolytic crisis with untimely treatment is serious (possibly death).

Since hereditary spherocytosis is inherited in an autosomal dominant manner with a fairly high penetrance of the gene, it must be taken into account that the risk of having a sick child (of either sex) if one of the parents has hereditary spherocytosis is 50%. Children with hereditary spherocytosis are constantly monitored at the dispensary.

Diet. Introduction to diet increased amount folic acid(more than 200 mcg/day). Recommended Products: bakery products made from flour coarse, buckwheat and oatmeal, millet, soybeans, beans, chopped raw vegetables (cauliflower, green onions, carrots), mushrooms, beef liver, cottage cheese, cheese.

Prevention of Hereditary spherocytosis (Minkowski-Choffard disease): Hereditary spherocytosis cannot be prevented. However, people with hereditary spherocytosis can contact a genetic counselor to discuss the possibility of identifying the defective gene that causes the disease in their children.

Prevention of hereditary spherocytosis comes down to therapeutic measures during crises.

Anemia for a long time was considered a disease of poor people: the absence of healthy food, simple essential vitamins, unfavorable environmental conditions. It would seem similar problems can be easily solved and anemia should generally sink into oblivion, but statistics show disappointing facts: every fifth child is on the verge of this disease. Pregnant women are the first to be hit. Almost everyone expectant mother doctors state low hemoglobin, and this is the first stage of the disease. You can brush aside all fears, if not for the consequences left by anemia: in pregnant women, there is a risk of abnormalities in the unborn baby; in children – changes in the composition of the blood that negatively affect further development; adults are at risk of losing their ability to work. Correct treatment can stop the disease, destroy it, but some forms of anemia are not so harmless and simple. Hereditary spherocytosis, or Minkowski-Choffard anemia, belongs to this category.

The first mentions of anemia date back to the Middle Ages: pale, emaciated faces were considered the standard of beauty, muscle weakness was welcomed, especially in beautiful ladies. The sad result of the pursuit of beauty was imminent death. In the 19th century, scientists were able to identify the cause of the disease. By that time, anemia had become a real epidemic, various forms appeared, and the mortality rate from it was quite high. In 1900, the German general practitioner Oscar Minkowski discovered that anemia is inherited, and 7 years later the French physician Anatole Chauffard, continuing his colleague’s research, finally figured out this type of disease. This is a rather rare type: out of 10,000 people, the disease affects 3–4 people. The disease prefers European countries, but this does not detract from its danger, because the main factor - heredity - is like a time bomb. That is why it is necessary to have basic knowledge about this disease.

First of all, you should know: anemia is a disease of the circulatory system that affects red blood cells, erythrocytes. A deficiency of these small cells leads to various violations, failures, anomalies in the human body. Red blood cells and leukocytes are the main building blocks from which circulatory system person. If leukocytes perform protective function, then, thanks to red blood cells, the following important processes occur:

saturation of all organs with oxygen;
transfer carbon dioxide from tissues, organs, muscles back to the lungs;
amino acids reach all parts of the body, replenishing the required level.

In other words, thanks sufficient number red blood cells, the entire functioning of the body is supported, but imbalance and deficiency of red cells lead to disastrous consequences. Red cells are “born” in the bone marrow, where they go through several stages of “growing up” necessary for full functioning. Homopoietic cells pass next stages:

Megaloblasts.
Erythroblasts.
Normocytes.
Reticulocytes.

Between the last stage The development of the cell and the moment of its appearance takes only a few hours. The main component of the red blood cell is the well-known hemoglobin, which is responsible for the color of these cells. The “life” of red cells is short, only 60–120 days, then they enter the liver or spleen, where they are destroyed. Number of red blood cells should not decrease. As old cells die, new ones appear on the way. In this way, the human body functions correctly and efficiently. A normal cell resembles a red biconcave disk of symmetrical shape, consisting of water and hemoglobin. Disturbances in the appearance of the red blood cell give reason to suspect abnormalities, diseases, and mutations of the circulatory system.

Anemia affects red cells, preventing them from going through the entire maturation process. As a result, red blood cells die in the bone marrow, not fulfilling their direct duties. The level of red cells drops sharply, and organs stop receiving much-needed oxygen. This is where the well-known pale skin and muscle weakness appear. More severe forms of the disease change the cell itself, and, accordingly, its functions. In addition, due to DNA changes, the disease is inherited.

Causes and symptoms of the disease

Microspherocytic anemia, identified by Minkowski and Shoffar, received its second name in 1968. A component of the erythrocyte - a membrane protein enzyme - mutates under the influence of certain factors, subsequently destroying another component - spectrin. It is spectrin that is responsible for the shape and growth of the red blood cell; in its absence, the red cell turns into a biconvex small cell. Thus, the term “microsphrocytes” - modified red blood cells - was born. Small mutants subsequently transform other cells, which die without maturing. This begins a process called hereditary spherocytosis.

The hereditary type of the disease is divided into mild and severe forms. Light type Anemia is determined by the following symptoms:

mild jaundice;
increased size of the spleen and liver, since it is in these organs that the process of death of red blood cells occurs;
pale skin;
general weakness;
the presence of stones in the bile ducts.

A severe form of the disease is characterized by:

high temperature;
gray or lemon skin tone;
severe weakness, loss of consciousness, inability to move;
significantly enlarged spleen, liver, pancreas, respectively, severe pain in the stomach, sides;
nausea, vomiting;
change in color of stool, urine;
low hemoglobin level.

Sometimes symptoms may result from severe stress, for example, after hypothermia. The later the first signs appear, the more severe hereditary spherocytosis occurs. As they disintegrate, altered red blood cells produce large number bilirubin. Without having time to be eliminated from the body, it negatively affects many organs. It is this component that plays a fatal role. They especially suffer from it toxic effects nervous and reproductive system small children. This translates into delays mental development, mutations of the physical plane, abnormal development organs.

Anemia cannot always be recognized in its first stages: sometimes the only sign is pale, gray, yellow skin, and only special tests can make a final diagnosis: ultrasound abdominal cavity, bone marrow puncture. Heavier forms leave a significant imprint on appearance patient: the shape of the skull changes (tower), the bridge of the nose widens, the palate transforms, there is a wide gap between the teeth.

The transmission of a damaged gene can be not only from father to son - there are also options for transmitting the disease through generations. A big role in this is played by lifestyle, nutrition, availability bad habits, chemical effects on the body. Similar factors only aggravate the situation, provoking deeper changes in DNA.

Treatment and prevention of anemia

Treatment of Minkowski-Choffard hemolytic anemia occurs in stages. Patients need to tune in to a long recovery process, depending on the severity of the disease, the patient’s age, and laboratory test results. Mild forms of any anemia are treated proper nutrition: food should be abundant useful microelements, especially important role foods rich in iron and folic acid play a role. Recommended consumption of the following products:

nuts;
cabbage, broccoli;
asparagus;
carrot:
corn;
legumes;
cottage cheese;
fruits, citrus fruits, watermelons;
tomatoes;
liver;
buckwheat porridge.

More severe forms of the disease require conservative treatment with hospitalization. It is especially difficult to treat patients mature age, since their risk of developing a hemolytic crisis increases and, as a result, death is possible. Surgery– splenectomy – recommended in as a last resort when the degree of the disease does not allow the use conservative therapy. Removing the spleen helps increase hemoglobin levels and red blood cell counts. Within a few days, patients’ complexion changes and their blood tests improve. They do it for children similar procedure at the age of 4 – 6 years. It is advisable not to delay the operation until significant changes have occurred in the liver and pancreas.

People susceptible to this disease should be constantly under medical supervision. Continuous treatment, taking a number of vitamins, medications, taking tests - all this is designed to support correct level red blood cells, hemoglobin, bilirubin. The slightest change in tests can lead to a deterioration in your health. Patients with more than light form anemia, it is recommended to get tested every 6 months, and complex treatment they must take place every year. Even 20 years ago it was widely practiced hormonal treatment However, when comparing the results, modern doctors do not recommend resorting to such measures. The prognosis for this anemia is quite favorable, especially after removal of the spleen. Unfortunately, spherocytosis will not disappear completely, but there will be no further progression of the disease. At severe forms as a complication cirrhosis and cholelithiasis. A hemolytic crisis can cause cerebral edema, and then the prognosis becomes very unfavorable.

Microcytic hemolytic anemia is a hereditary disease. Inherited in an autosomal dominant manner. The essence of the pathological process lies in a defect in the structure of the erythrocyte membrane. An experiment on mice showed that in hereditary microspherocytosis, the erythrocyte membrane protein spectrin is absent. The bone marrow produces defective red blood cells that differ from normal topics that they are smaller in diameter and have the shape of a biconvex rather than a biconcave lens, which is why they are called microspherocytes. At the same time, the volume of erythrocytes remains within normal fluctuations, and anemia, being essentially spherocytic, is not microcytic. The name “microspherocytic” reflects the fact that due to changes in the shape and reduction in the diameter of red blood cells in a blood smear, they look similar to microcytes. Hardware analysis shows normal parameters of red blood cells.

The membrane of such red blood cells has increased permeability to sodium ions. This leads to their swelling. The spherical shape and structural features of the red blood cell membrane protein interfere with their ability to pass through bottlenecks in the blood flow without damage or destruction. The main site of hemolysis is the spleen; studies have shown that the lifespan of red blood cells in such patients is 8-15 days instead of 90-120 in healthy people.

The first signs of the disease may appear in childhood, but more often - in youth and maturity. For a long time, the only sign of the disease is a icteric discoloration of the sclera and skin. The current is wavy. The cause of increased hemolysis and, accordingly, worsening of the condition is most often infection , hypothermia, pregnancy. Weakness develops, shortness of breath and rapid heartbeat appear when physical activity. The intensity of jaundice can vary: from insignificant to pronounced. With each exacerbation, jaundice intensifies. Against the background of chronic intoxication and tissue hypoxia, growth retardation and physical development, decreased tolerance to physical activity. Patients may have skeletal abnormalities in the form of a high standing hard palate(“Gothic palate”), etc.

It should be borne in mind that the course of this type of hemolytic anemia may be complicated by cholelithiasis due to the formation gallstones. In such cases, pain attacks may occur in the right hypochondrium. The intensity of jaundice increases due to the addition of an obstructive mechanism. A characteristic sign of the disease is an enlargement of the spleen, and subsequently the liver. The spleen can increase to a significant size, which is due to increased hemolysis of red blood cells in it.

During an exacerbation, the content of urobilin in the urine increases, and stercobilin in the feces. The content of erythrocytes and hemoglobin level during the period of remission may be normal, but during the period of increased hemolysis, anemia develops. Noteworthy is the presence in the peripheral blood of red blood cells of smaller diameter while maintaining or even increasing their volume. Spherocytes are intensely stained and have no clearing in the center. Such red blood cells have reduced osmotic resistance. Their hemolysis can begin at a sodium chloride concentration of 0.60-0.70% instead of 0.44-0.46% normally. Their resistance is also reduced. As with any other form of hemolytic anemia, an increase in the number of reticulocytes is characteristic, which indicates their accelerated leaching from the bone marrow. The number of leukocytes usually does not change. Severe hyperplasia of erythroid cells is observed in the bone marrow. Their number can increase to 30-50% instead of 15-25% normally.

Treatment. In a stable course, when the disease manifests itself as a mild jaundice coloration of the skin, with good health and no signs of anemia, no special treatment methods are required. For frequent hemolytic crises, accompanied by the development of anemia and complications (cholelithiasis, splenic infarction), splenectomy is indicated. After splenectomy, jaundice disappears, hemoglobin levels and the number of red blood cells are normalized, the number of reticulocytes decreases, liver function improves, and the bilirubin content in the blood serum decreases to normal levels. However, the nature of erythropoiesis does not change. Microspherocytosis and reduced osmotic resistance of red blood cells remain. Improvement in the condition is achieved only by removing the organ where the most intense hemolysis of red blood cells occurs, which leads to an increase in their life expectancy.

Hereditary spherocytosis (Minkowski-Choffard disease)

What is Hereditary spherocytosis (Minkowski-Choffard disease) -

Hereditary spherocytosis (Minkowski-Choffard disease)- hemolytic anemia due to a defect in the cell membrane of erythrocytes, the permeability of the membrane for sodium ions becomes excessive, and therefore the erythrocytes acquire a spherical shape, become brittle and are easily subject to spontaneous hemolysis.

Hereditary spherocytosis is a widespread disease (2-3 cases per 10,000 population) and occurs in people of most ethnic groups, but residents of northern Europe are more often affected.

What provokes / Causes of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis is transmitted in an autosomal dominant manner. As a rule, one of the parents shows signs of hemolytic anemia. Sporadic cases of the disease are possible (in 25%), representing new mutations.

Pathogenesis (what happens?) during Hereditary spherocytosis (Minkowski-Choffard disease):

IN pathogenesis of hereditary spherocytosis 2 provisions are indisputable: the presence of a genetically determined anomaly of proteins, or spectrins, of the erythrocyte membrane and the eliminating role of the spleen in relation to spheroidally altered cells. All patients with hereditary spherocytosis have a deficiency of spectrins in the erythrocyte membrane (up to 1/3 of the norm), and some have a violation of their functional properties, and it has been established that the degree of spectrin deficiency may correlate with the severity of the disease.

Symptoms of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis can manifest itself from the neonatal period, but more pronounced symptoms are found towards the end of preschool and at the beginning of school age. Early manifestation of the disease predetermines a more severe course. Boys get sick more often.

Hereditary spherocytosis is hemolytic anemia with a predominantly intracellular type of hemolysis, this also causes the clinical manifestations of the disease - jaundice, enlarged spleen, a greater or lesser degree of anemia, a tendency to form gallstones.

Complaints and clinical and laboratory symptoms are largely determined by the period of the disease. Outside of a hemolytic crisis, there may be no complaints. With the development of a hemolytic crisis, there are complaints of increased fatigue, lethargy, headache, dizziness, pallor, jaundice, decreased appetite, abdominal pain, a possible increase in temperature to high levels, nausea, vomiting, increased frequency of stools, and a terrible symptom - the appearance of convulsions.

The symptoms of a crisis are largely determined by anemia and depend on the degree of hemolysis.
On objective examination, the skin and visible mucous membranes are pale or lemon yellow. In children with early manifestations of hereditary spherocytosis, deformations of the skeleton are possible, especially of the skull (tower, square skull, the position of the teeth changes, etc.); Genetic stigmas are not uncommon. Patients exhibit varying degrees of severity of changes in the cardiovascular system caused by anemia. Hepatolienal syndrome with a predominant enlargement of the spleen is characteristic. The spleen is dense, smooth, often painful, which is apparently explained by tension of the capsule due to blood filling or perisplenitis. The color of excrement at the time of crisis is intense. It should be noted that there are possible fluctuations in the size of the spleen: a significant increase during hemolytic crises and a decrease during periods of relative well-being.

Depending on the severity of hereditary spherocytosis, clinical symptoms may be mild. Sometimes jaundice may be the only symptom for which the patient consults a doctor. It is to these individuals that Shoffar’s famous expression applies: “They are more jaundiced than sick.” Along with the typical classical signs of the disease, there are forms of hereditary spherocytosis, when hemolytic anemia can be so well compensated that the patient learns about the disease only after undergoing an appropriate examination.

Along with the most typical hemolytic crises in severe hereditary spherocytosis, aregenerative crises with symptoms of hypoplasia of the predominantly red bone marrow are possible. Such crises can develop acutely with quite pronounced symptoms of anemia-hypoxia and are usually observed in children after 3 years of life. Aregenerative crises are short-term (1-2 weeks) and are reversible, unlike true aplasia.

Hereditary spherocytosis is complicated by the formation of pigment stones in the gallbladder and bile ducts; after 10 years, gallstones occur in half of patients who have not undergone splenectomy.

Diagnosis of Hereditary spherocytosis (Minkowski-Choffard disease):

Diagnosis of hereditary spherocytosis diagnosed on the basis of genealogical history, clinical data described above and laboratory tests. The hemolytic nature of anemia is confirmed by normochromic normocytic anemia with reticulocytosis, indirect hyperbilirubinemia, the severity of which depends on the severity of hemolysis. The final diagnosis is based on the morphological characteristics of erythrocytes and a characteristic sign of hereditary spherocytosis - a change in the osmotic resistance of erythrocytes.

The morphological features of erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (average erythrocyte diameter
A characteristic sign of hereditary spherocytosis is a decrease in the minimum osmotic resistance (persistence) of red blood cells - hemolysis begins at 0.6-0.7% NaCl (the norm is 0.44-0.48% NaCl). To confirm the diagnosis, a significant decrease in the minimum osmotic resistance is important. The maximum resistance can be increased (norm 0.28-0.3% NaCl). Among patients with hereditary spherocytosis, there are people who, despite obvious spherocytosis, under normal conditions have normal osmotic resistance of red blood cells. In these cases, it is necessary to examine it after preliminary daily incubation of red blood cells.

Among other diseases, hereditary spherocytosis is primarily differentiated from hemolytic disease of newborns, and at older ages - with viral hepatitis and autoimmune hemolytic anemia.

Treatment of Hereditary spherocytosis (Minkowski-Choffard disease):

Treatment of hereditary spherocytosis carried out depending on the clinical manifestations of the disease and the age of the child. During a hemolytic crisis, treatment is conservative. The patient must be hospitalized. The main pathological syndromes that develop during a crisis are: anemia-hypoxia, cerebral edema, hyperbilirubinemia, hemodynamic disorders, acidotic and hypoglycemic changes. Therapy should be aimed at eliminating these disorders according to generally accepted schemes. Erythromass transfusions are indicated only with the development of severe anemia (8-10 ml/kg). The use of glucocorticoids is inappropriate. Upon recovery from the crisis, the regimen and diet are expanded, and choleretic drugs (mainly cholekinetics) are prescribed. In the event of the development of an aregenerative crisis, replacement blood transfusion therapy and stimulation of hematopoiesis are necessary (erythromass transfusions, prednisolone 1-2 mg/kg/day, vitamin B12 until the appearance of reticulocytosis, etc.).

A radical method of treating hereditary spherocytosis is splenectomy, which ensures practical recovery, despite the preservation of spherocytes and a decrease in osmotic resistance (their severity decreases). The optimal age for surgery is 5-6 years. However, age cannot be considered as a contraindication to surgical treatment. Severe hemolytic crises, their continuous course, and aregenerative crises are indications for splenectomy even in young children. There is an increased susceptibility to infectious diseases within 1 year after surgery. In this regard, a number of countries have adopted monthly administration of bicillin-5 for one year after splenectomy, or immunization with a pneumococcal polyvaccine is carried out before a planned splenectomy.

Forecast favorable for hereditary spherocytosis. However, in severe cases, hemolytic crisis if not treated promptly is serious (possible death).

Diet. Introducing an increased amount of folic acid into the diet (more than 200 mcg/day). Recommended products: wholemeal baked goods, buckwheat and oatmeal, millet, soybeans, beans, chopped raw vegetables (cauliflower, green onions, carrots), mushrooms, beef liver, cottage cheese, cheese.

Prevention of Hereditary spherocytosis (Minkowski-Choffard disease):

Hereditary spherocytosis cannot be prevented. However, people with hereditary spherocytosis can contact a genetic counselor to discuss the possibility of identifying the defective gene that causes the disease in their children.

Prevention of hereditary spherocytosis comes down to therapeutic measures during crises.

Which doctors should you contact if you have Hereditary spherocytosis (Minkowski-Choffard disease):

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Other diseases from the group Diseases of the blood, hematopoietic organs and certain disorders involving the immune mechanism:

B12 deficiency anemia

Anemia caused by impaired synthesis and utilization of porphyrins

Anemia caused by a violation of the structure of globin chains

Anemia characterized by the carriage of pathologically unstable hemoglobins

Fanconi anemia

Anemia associated with lead poisoning

Aplastic anemia

Autoimmune hemolytic anemia

Autoimmune hemolytic anemia with incomplete heat agglutinins

Autoimmune hemolytic anemia with complete cold agglutinins

Autoimmune hemolytic anemia with warm hemolysins

Heavy chain diseases

Werlhof's disease

von Willebrand disease

Di Guglielmo's disease

Christmas disease

Marchiafava-Miceli disease

Randu-Osler disease

Alpha heavy chain disease

Gamma heavy chain disease

Henoch-Schönlein disease

Extramedullary lesions

Hairy cell leukemia

Hemoblastoses

Hemolytic-uremic syndrome

Hemolytic anemia associated with vitamin E deficiency

Hemolytic anemia associated with glucose-6-phosphate dehydrogenase (G-6-PDH) deficiency

Hemolytic disease of the fetus and newborn

Hemolytic anemia associated with mechanical damage to red blood cells

Hemorrhagic disease of the newborn

Malignant histiocytosis

Histological classification of lymphogranulomatosis

DIC syndrome

Deficiency of K-vitamin-dependent factors

Factor I deficiency

Factor II deficiency

Factor V deficiency

Factor VII deficiency

Factor XI deficiency

Factor XII deficiency

Factor XIII deficiency

Iron deficiency anemia

Patterns of tumor progression

Immune hemolytic anemias

Bedbug origin of hemoblastoses

Leukopenia and agranulocytosis

Lymphosarcoma

Lymphocytoma of the skin (Caesary disease)

Lymphocytoma of the lymph node

Lymphocytoma of the spleen

Radiation sickness

March hemoglobinuria

Mastocytosis (mast cell leukemia)

Megakaryoblastic leukemia

The mechanism of inhibition of normal hematopoiesis in hemoblastoses

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Which doctors should you contact if you have Hereditary spherocytosis (Minkowski-Choffard disease)

What is Hereditary spherocytosis (Minkowski-Choffard disease)

Hereditary spherocytosis is a widespread disease (2-3 cases per 10,000 population) and occurs in people of most ethnic groups, but residents of northern Europe are more often affected.

What causes Hereditary spherocytosis (Minkowski-Choffard disease)

Pathogenesis (what happens?) during Hereditary spherocytosis (Minkowski-Choffard disease)

Symptoms of Hereditary spherocytosis (Minkowski-Choffard disease)

Hereditary spherocytosis is hemolytic anemia with a predominantly intracellular type of hemolysis, this also causes the clinical manifestations of the disease - jaundice, enlarged spleen, a greater or lesser degree of anemia, a tendency to form gallstones.

Hereditary spherocytosis is complicated by the formation of pigment stones in the gallbladder and bile ducts; after 10 years, gallstones occur in half of patients who have not undergone splenectomy.

Diagnosis of Hereditary spherocytosis (Minkowski-Choffard disease)

The morphological features of erythrocytes in hereditary spherocytosis include a spherical shape (spherocytes), a decrease in diameter (the average diameter of an erythrocyte. A characteristic sign of hereditary spherocytosis is a decrease in the minimum osmotic resistance (persistence) of erythrocytes - hemolysis begins at 0.6-0.7% NaCl (norm 0. 44-0.48% NaCl). To confirm the diagnosis, a significant decrease in the minimum osmotic resistance is important. The maximum resistance can be increased (the norm is 0.28-0.3% NaCl. Among patients with hereditary spherocytosis, there are people who, despite obvious). spherocytosis, under normal conditions the osmotic resistance of erythrocytes is normal. In these cases, it is necessary to examine it after a preliminary daily incubation of erythrocytes.

Among other diseases, hereditary spherocytosis is primarily differentiated from hemolytic disease of newborns, and at older ages - with viral hepatitis and autoimmune hemolytic anemia.

Treatment of Hereditary spherocytosis (Minkowski-Choffard disease)

Forecast favorable for hereditary spherocytosis. However, in severe cases, hemolytic crisis if not treated promptly is serious (possible death).