What is hemophilia in children. How is hemophilia inherited and modern methods of treating the disease?

Such a serious disease as hemophilia is inherited and is manifested by frequent bleeding and hematomas. Why does it appear in a child, how to identify it and can it be cured?

What is this?

Hemophilia is a disease in which a person bleeds frequently and for a long time.

Reasons

The disease is transmitted genetically from parents to children. The disease manifests itself predominantly in men, as it is associated with the transmission of a gene that is linked to the X chromosome. With this gene transfer, women become carriers.

In girls, hemophilia can appear extremely rarely - if the father is sick and the mother has the gene for the disease. Also, in some patients, hemophilia is not detected in relatives. Scientists explain their disease by gene mutations.

Girls are much less likely to develop hemophilia than boys

The gene that is affected in hemophilia is responsible for blood clotting, in particular, for the presence in the child’s blood of certain substances involved in clotting (they are called clotting factors).

Taking into account exactly what factor is missing, the following types are distinguished:

hemophilia A is the most common and is associated with the absence of factor VIII;
hemophilia B - with this type there is no factor IX in the child’s body;
hemophilia C is the rarest type, which is now classified as a coagulopathy.

The symptoms of all these pathologies are the same, but determining the type of disease is very important for treatment.

Determining the type of hemophilia is necessary for proper treatment

Development of the disease

Due to the absence of a certain coagulation factor, the process of blood clot formation is disrupted when blood vessels are damaged. In this case, bleeding in hemophilia is represented by the hematoma type, which is delayed.

Immediately after vessel damage, platelets are responsible for blood clotting, forming a primary thrombus. However, this clot cannot stop the bleeding completely, and since the formation of a final thrombus is impossible due to the lack of the necessary clotting factors, the bleeding resumes and lasts for quite a long time.

Depending on the severity, hemophilia can be:

mild - bleeding occurs only during injury and medical procedures);
moderate - extensive hematomas, the disease manifests itself in childhood);
severe - the disease is detected during the neonatal period).

Symptoms

The main symptoms of hemophilia in a child are:

Bleeding.
Hematomas.
Hemarthrosis.

The disease manifests itself primarily as excessive bleeding. The patient periodically experiences bleeding of different locations. The peculiarity of such bleeding is that it does not correspond to the severity of the damaging factor, as well as its appearance over time, and not immediately after the injury. Due to such bleeding during dental and other medical procedures, as well as during injuries, the child loses a lot of blood. If bleeding from the gums or nose begins, it is difficult to stop using conventional methods.

With minor trauma, large hematomas appear in patients with hemophilia. The blood in them does not thicken for a long time. Also, very often, children can develop hemarthrosis (bleeding inside the joints), in which the joint swells, hurts, and stops functioning. In most cases, the knee, elbow, and ankle joints are affected.

The disease is often accompanied by digestive disorders. Blood may be present in the urine and stool of people with hemophilia.

In children in the first months of life, the disease often manifests itself in the form of cephalohematomas - hematomas appear on the head and can occupy a large area.

Another symptom that occurs in newborns is bleeding from the umbilical cord. However, in most infants, hemophilia may not manifest itself at all, since blood clotting in the first months of a baby’s life is provided by substances found in mother’s milk.

Complications

The disease is especially dangerous due to the sudden appearance of bleeding in the tissues of the brain or spinal cord, as well as hemorrhages in other important organs. In severe forms of the disease, 10% of newborns develop cerebral bleeding, which threatens their life.

Complications of the disease also include the appearance of chronic pain, arthropathy, contractures, anemia, and pseudotumors. Hematomas can compress arteries, nerves, and intestines, causing necrosis, sensory disturbances, obstruction and other problems. With retropharyngeal bleeding, the child may experience suffocation.

In addition, a patient with hemophilia is constantly at risk of contracting blood-borne diseases, because he is forced to receive drugs from donor blood.

Patients with hemophilia should try by all means to avoid any bleeding.

Diagnostics

The anomaly can be diagnosed before the baby is born.
In a newborn, prolonged bleeding from the cut umbilical cord, as well as the appearance of hematomas, may suggest the presence of hemophilia.
In older children, suspicion may be caused by frequent nosebleeds, extensive hematomas when falling, long-lasting bruises, and the appearance of hemarthrosis in large joints.

To identify hemophilia, adults are asked about family genetic diseases and laboratory tests are performed, the main ones being blood clotting tests.

Initial studies will reveal prolongation of clotting time with normal prothrombin and thrombin tests. After these, clarifying tests are carried out to determine the level of coagulation factors.

Treatment

To treat hemophilia, replacement of missing coagulation factors is used. With the help of an injection, factors are introduced into the patient’s blood that he does not produce. The drugs are made from donated blood. In type A disease, fresh blood can be transfused, since factor VIII is destroyed during long-term storage. For the treatment of type B, canned blood can be used, since the ninth factor is not destroyed during storage of the donor material.

If a child develops hemarthrosis, depending on its severity, rest and immobilization, puncture of the hematoma, or surgical treatment are prescribed.

Clotting factors needed by the baby are introduced into the baby's blood

Probability of inheritance

If the mother is healthy and the father has hemophilia, then in such a family all male children will be healthy, and all female children will become carriers of the disease gene.

If the father is healthy and the mother has the hemophilia gene, then the sons can be either healthy (if the son gets a healthy X chromosome) or sick (if the son has an X chromosome with the disease gene). Daughters in such a family can either be completely healthy or become carriers of a pathogenic gene.

Although the disease cannot be cured, with proper treatment, people with hemophilia can be kept in good health. All children diagnosed with hemophilia are registered at the dispensary. Their parents are told about the features of caring for the patient, and are also taught how to provide first aid to a child in case of bleeding.

It is important to create all conditions for the normal development of the baby, as well as to prevent bleeding. Children with this disease cannot work physically, so emphasis should be placed on intellectual work.

Hemophilia should not be confused with hemophilus influenzae infection, against which children are vaccinated at an early age. These are different diseases and there is no vaccine against hemophilia. As for vaccination for hemophilia, it is not canceled, but rather recommended. However, injections to a sick child can only be given subcutaneously.

– hereditary pathology of the hemostatic system, which is based on a decrease or disruption of the synthesis of blood clotting factors VIII, IX or XI. A specific manifestation of hemophilia is the patient’s tendency to various bleedings: hemarthrosis, intramuscular and retroperitoneal hematomas, hematuria, gastrointestinal bleeding, prolonged bleeding during operations and injuries, etc. In the diagnosis of hemophilia, genetic counseling, determination of the level of activity of clotting factors, DNA- research, coagulogram analysis. Treatment of hemophilia involves replacement therapy: transfusion of hemoconcentrates with coagulation factors VIII or IX, fresh frozen plasma, antihemophilic globulin, etc.

General information

Hemophilia is a disease from the group of hereditary coagulopathies, caused by a deficiency of blood plasma coagulation factors and characterized by an increased tendency to hemorrhage. The prevalence of hemophilia A and B is 1 case per 10,000-50,000 males. Most often, the onset of the disease occurs in early childhood, so hemophilia in a child is an urgent problem in pediatrics and pediatric hematology. In addition to hemophilia, other hereditary hemorrhagic diathesis also occurs in children: hemorrhagic telangiectasia, thrombocytopathy, Glanzmann's disease, etc.

Causes of hemophilia

The genes that cause the development of hemophilia are linked to the sex X chromosome, so the disease is inherited as a recessive trait in the female line. Hereditary hemophilia affects almost exclusively males. Women are conductors (conductors, carriers) of the hemophilia gene, passing the disease on to some of their sons.

A healthy man and a woman conductor are equally likely to have both sick and healthy sons. The marriage of a man with hemophilia to a healthy woman produces healthy sons or daughters who are conductors. Isolated cases of hemophilia have been described in girls born to a carrier mother and a hemophiliac father.

Congenital hemophilia occurs in almost 70% of patients. In this case, the form and severity of hemophilia is inherited. About 30% of observations occur in sporadic forms of hemophilia associated with a mutation in the locus encoding the synthesis of plasma coagulation factors on the X chromosome. In the future, this spontaneous form of hemophilia becomes hereditary.

Blood clotting, or hemostasis, serves as the body's most important protective reaction. Activation of the hemostatic system occurs in the event of damage to blood vessels and the onset of bleeding. Blood clotting is ensured by platelets and special substances - plasma factors. If there is a deficiency of one or another coagulation factor, timely and adequate hemostasis becomes impossible. In hemophilia, due to a deficiency of VIII, IX or other factors, the first phase of blood coagulation is disrupted - the formation of thromboplastin. At the same time, blood clotting time increases; sometimes the bleeding does not stop for several hours.

Classification of hemophilia

Depending on the deficiency of one or another blood clotting factor, hemophilia A (classical), B (Christmas disease), C, etc. are distinguished.

Classic hemophilia makes up the vast majority (about 85%) of cases of the syndrome and is associated with a deficiency of coagulation factor VIII (antihemophilic globulin), leading to disruption of the formation of active thrombokinase.
For hemophilia B, accounting for 13% of cases of the disease, there is a deficiency of factor IX (plasma component of thromboplastin, Christmas factor), which is also involved in the formation of active thrombokinase in phase I of blood coagulation.
occurs with a frequency of 1-2% and is caused by a deficiency of blood coagulation factor XI (a precursor to thromboplastin). Other types of hemophilia account for less than 0.5% of cases; in this case, there may be a deficiency of various plasma factors: V (parahemophilia), VII (hypoproconvertinemia), X (Stewart-Prower disease), etc.

The severity of the clinical course of hemophilia depends on the degree of insufficiency of the coagulation activity of plasma coagulation factors.

For severe hemophilia the level of the missing factor is up to 1%, which is accompanied by the development of severe hemorrhagic syndrome already in early childhood. A child with severe hemophilia experiences frequent spontaneous and post-traumatic hemorrhages in muscles, joints, and internal organs. Immediately after the birth of a child, cephalohematomas, prolonged bleeding from the umbilical process, and melena may be detected; later - prolonged bleeding associated with the eruption and replacement of baby teeth.
For moderate hemophilia the child's plasma factor level is 1-5%. The disease develops in preschool age; hemorrhagic syndrome is moderately expressed, hemorrhages in the muscles and joints, and hematuria are noted. Exacerbations occur 2-3 times a year.
Mild form of hemophilia characterized by a factor level above 5%. The onset of the disease occurs at school age, often in connection with injuries or operations. Bleeding is less frequent and less intense.

Symptoms of hemophilia

In newborns, signs of hemophilia can include prolonged bleeding from the umbilical cord stump, subcutaneous hematomas, and cephalohematomas. Bleeding in children of the first year of life can be associated with teething, surgical interventions (incision of the frenulum of the tongue, circumcision). The sharp edges of baby teeth can cause biting of the tongue, lips, cheeks and bleeding from the mucous membranes of the mouth. However, hemophilia rarely debuts in infancy due to the fact that breast milk contains a sufficient amount of active thrombokinase.

The likelihood of post-traumatic bleeding increases significantly when a child with hemophilia begins to stand and walk. Children after one year are characterized by nosebleeds, subcutaneous and intermuscular hematomas, and hemorrhages in large joints. Exacerbations of hemorrhagic diathesis occur after infections (ARVI, chickenpox, rubella, measles, influenza, etc.) due to impaired vascular permeability. In this case, spontaneous diapedetic hemorrhages often occur. Due to constant and prolonged bleeding, children with hemophilia have anemia of varying severity.

According to the degree of decreasing frequency of hemorrhage in hemophilia, they are distributed as follows: hemarthrosis (70-80%), hematomas (10-20%), hematuria (14-20%), gastrointestinal bleeding (8%), hemorrhage in the central nervous system (5% ).

Hemarthrosis is the most common and specific manifestation of hemophilia. The first intra-articular hemorrhages in children with hemophilia occur at the age of 1-8 years after bruises, injuries or spontaneously. With hemarthrosis, pain is expressed, there is an increase in the volume of the joint, hyperemia and hyperthermia of the skin over it. Recurrent hemarthrosis leads to the development of chronic synovitis, deforming osteoarthritis and contractures. Deforming osteoarthritis leads to disruption of the dynamics of the musculoskeletal system as a whole (curvature of the spine and pelvis, muscle wasting, osteoporosis, hallux valgus, etc.) and to the onset of disability already in childhood.

With hemophilia, hemorrhages often occur in soft tissues - subcutaneous tissue and muscles. Children have persistent bruises on the torso and limbs, and deep intermuscular hematomas often occur. Such hematomas are prone to spread, since the spilled blood does not clot and, penetrating along the fascia, infiltrates the tissue. Extensive and intense hematomas can compress large arteries and peripheral nerve trunks, causing intense pain, paralysis, muscle atrophy or gangrene.

Quite often with hemophilia, bleeding occurs from the gums, nose, kidneys, and gastrointestinal tract. Bleeding can be initiated by any medical procedure (intramuscular injection, tooth extraction, tonsillectomy, etc.). Bleeding from the pharynx and nasopharynx is extremely dangerous for a child with hemophilia, as it can lead to airway obstruction and require emergency tracheostomy. Hemorrhages in the meninges and brain lead to severe damage to the central nervous system or death.

Hematuria in hemophilia can occur spontaneously or as a result of injuries to the lumbar region. In this case, dysuric phenomena are observed, and when blood clots form in the urinary tract, attacks of renal colic occur. In patients with hemophilia, pyelectasia, hydronephrosis, and pyelonephritis are often found.

Gastrointestinal bleeding in patients with hemophilia may be associated with taking NSAIDs and other drugs, with exacerbation of the latent course of gastric and duodenal ulcers, erosive gastritis, hemorrhoids. With hemorrhages in the mesentery and omentum, a picture of an acute abdomen develops, requiring differential diagnosis with acute appendicitis, intestinal obstruction, etc.

A characteristic sign of hemophilia is the delayed nature of bleeding, which usually does not develop immediately after injury, but after some time, sometimes after 6-12 or more hours.

Diagnosis of hemophilia

Diagnosis of hemophilia is carried out with the participation of a number of specialists: neonatologist, pediatrician, geneticist, hematologist. If a child has concomitant pathology or complications of the underlying disease, consultations are held with a pediatric gastroenterologist, pediatric traumatologist-orthopedist, pediatric otolaryngologist, pediatric neurologist, etc.

Married couples who are at risk of having a child with hemophilia should undergo medical and genetic counseling at the stage of pregnancy planning. Analysis of genealogical data and molecular genetic research can identify the carriage of a defective gene. It is possible to carry out prenatal diagnosis of hemophilia using chorionic villus biopsy or amniocentesis and DNA testing of cellular material.

After the baby is born, the diagnosis of hemophilia is confirmed using laboratory tests of hemostasis. The main changes in coagulogram parameters in hemophilia are represented by an increase in blood clotting time, APTT, thrombin time, INR, recalcification time; a decrease in PTI, etc. Crucial importance in diagnosing a form of hemophilia belongs to the determination of a decrease in the procoagulant activity of one of the coagulation factors below 50%.

For hemarthrosis, a child with hemophilia undergoes radiography of the joints; for internal bleeding and retroperitoneal hematomas - ultrasound of the abdominal cavity and retroperitoneal space; for hematuria - general urine analysis and ultrasound of the kidneys, etc.

Treatment of hemophilia

In hemophilia, complete relief from the disease is impossible, so the basis of treatment is hemostatic replacement therapy with concentrates of blood coagulation factors VIII and IX. The required dose of concentrate is determined by the severity of hemophilia, the severity and type of bleeding.

In the treatment of hemophilia, there are two directions - preventive and “on demand”, during the period of manifestations of hemorrhagic syndrome. Prophylactic administration of coagulation factor concentrates is indicated for patients with severe hemophilia and is carried out 2-3 times a week to prevent the development of hemophilic arthropathy and other bleeding. With the development of hemorrhagic syndrome, repeated transfusions of the drug are required. Additionally, fresh frozen plasma, erythromass, and hemostatic agents are used. All invasive interventions in patients with hemophilia (suturing, tooth extraction, any operations) are carried out under the guise of hemostatic therapy.

For minor external bleeding (cuts, bleeding from the nasal cavity and mouth), a hemostatic sponge, application of a pressure bandage, and treatment of the wound with thrombin can be used. In case of uncomplicated hemorrhage, the child needs complete rest, cold, immobilization of the diseased joint with a plaster splint, subsequently UHF, electrophoresis, exercise therapy, and light massage. Patients with hemophilia are recommended to eat a diet enriched with vitamins A, B, C, D, calcium and phosphorus salts.

Prevention involves medical and genetic counseling of married couples with a family history of hemophilia. Children with hemophilia should always have a special passport with them, which indicates the type of disease, blood type and Rh affiliation. They are prescribed a protective regime and injury prevention; dispensary observation of a pediatrician, hematologist, pediatric dentist, pediatric orthopedist and other specialists; observation in a specialized hemophilia center.

Hemophilia is a disease of the hemostatic system inherited from generation to generation, characterized by impaired synthesis of clotting factors VIII, IX or XI, the deficiency of which causes a slowdown in blood clotting time and increases the duration of bleeding. The carrier of hemophilia is female, while mostly men suffer from it. Boys born to such a woman inherit this disease in 50% of cases. The carrier herself usually shows no signs of the disease.

In medicine, based on the type of missing clotting factor in the blood, the following types of disease are distinguished:

hemophilia A. Manifests itself in the absence of a specific protein - antihemophilic globulin, which is coagulation factor VIII. This type is the most common - hemophilia A occurs in 1 in 5,000 males;
hemophilia B. The occurrence of this type of hemophilia is caused by a deficiency or absence of Christmas factor, or factor IX. Hemophilia B in newborn boys is recorded in 1 out of 30,000 cases;
hemophilia C is a rare form of the disease characterized by the absence of coagulation factor XI. This type affects girls whose mother is a carrier of the mutated gene, and whose father has hemophilia. Occurs in 5% of cases.

The onset of the disease, as a rule, occurs in infancy, causing the formation of pathological bleeding, which in duration exceeds similar processes in healthy people. Therefore, this disease is one of the most important in modern pediatrics.

Causes of the disease

The etiology of this disease is currently not fully understood. It is assumed that the cause of hemophilia is due to a mutation in a recessive gene located on the X chromosome. It is responsible for the production of the antihemophilic factor; its transmission occurs by inheritance from a woman, who is the carrier of the disease (with a set of two X chromosomes), to a man (with one X chromosome). By receiving an X-linked mutated hemophilia gene from their mother, boys become carriers of the disease and can pass it on to future offspring.

Hemophilia can be characterized by long-term bleeding, the cause of which is the lack of blood clotting factors and a sufficient number of platelets. Their deficiency predetermines difficulty in hemostasis.

According to statistics, up to 80% of mothers who are carriers of hemophilia “gift” the mutated gene to their sons. But among male children with this blood clotting disorder, boys were found whose parents are not carriers of the disease. Therefore, we can conclude that hemophilia appeared in them during the formation of the germ cells of their parents. Consequently, the disease can be transmitted not only by inheritance, but there is also a probability of its independent appearance.

Symptoms of hemophilia

The first and main sign of the disease is bleeding, which can be observed in different age groups. The following symptoms are also characteristic of this disease:

recurrent nosebleeds;
detection of blood elements in urine and feces;
extensive hematomas formed after minor injuries;
continuous bleeding resulting from tooth extraction or injury;
Hemarthrosis (intra-articular bleeding) causes blood to flow into the joints, causing limited mobility and swelling.

Symptoms of the disease in childhood

Severe hemophilia develops in children during the first year of their life. Symptoms characteristic of it are the following:

bloody discharge from the umbilical wound;
hematomas, which, initially having a point nature, spread to different parts of the body and are localized both subcutaneously and on the mucous membranes;
bleeding that occurs after preventive vaccinations and other injections.

In addition to the above signs of the disease, in children starting from 2–3 years of age, symptoms such as articular ones, as well as small capillary hemorrhages (petechiae), which form for no reason during slight physical exertion, can be observed. Hemophilia in children from 4 years of age to school age is often presented by:

recurrent nosebleeds;
discharge from the gums;
periodic presence of blood in the urine (hematuria), the level of which is above the normal threshold;
extensive bruises (hemarthrosis), the development and long course of which contributes to the appearance of chronic contractures, arthropathy, as well as synovitis;
detection of blood elements in the child’s stool, indicating the initial stage of progressive anemia;
progression of bleeding localized in internal organs;
possible hemorrhages inside the brain, threatening severe damage to the central nervous system. Children with this complication are characterized by decreased appetite, thin physique and lack of discipline.

Such children may develop mild but prolonged bleeding that occurs after intramuscular injections. Therefore, they are recommended to be vaccinated and administered medications subcutaneously using a thin needle.

The danger of the disease, in addition to impaired hemostasis, consists of possible complications:

leukopenia;
hemolytic anemia;
disabling renal failure;
thrombocytopenia.

Due to the low immune response of the body that developed as a result of this disease, children with hemophilia often develop various types of complications with age.

Symptoms of the disease in women

Although the incidence of hemophilia in girls and women is extremely low, it is not completely excluded. Its course is mild, and the most common symptoms of the disease are as follows:

heavy menstrual flow;
bleeding that occurs after removal of tonsils or teeth;
nosebleeds;
von Willebrand disease, causing causeless episodic bleeding.

Symptoms of the disease in men

In adulthood, the disease only progresses. In addition to the signs of the disease that have already been present since childhood, new symptoms are added to it, causing much more harm to the body:

retroperitoneal bleeding. Their development provokes the appearance of acute diseases of the peritoneal organs, which can only be resolved surgically;
the formation of bruises, indicating both subcutaneous and intramuscular hemorrhages. Their danger lies in the compression of the vessels feeding the tissue, which leads to tissue necrosis. There is also a risk of blood poisoning due to infection;
posthemorrhagic anemia caused by nasal, gastrointestinal bleeding, bleeding from the gums, as well as the urinary canals;
hemorrhages in bone tissue, leading to its necrosis;
gangrene and possible paralysis resulting from giant hematomas;
bleeding of the mucous lining of the throat and larynx. May occur when the vocal cords are tense, as well as coughing;
joint hemorrhages contribute to the progression of osteoarthritis, ultimately leading to disability. The reason for this is limited joint mobility and atrophy of the muscles of the limbs.

To perform surgery, such patients are pre-administered antihemophilic drugs to avoid large blood loss.

Diagnosis of the disease

Currently, the disease is successfully diagnosed by determining the nature of inheritance. And although the symptoms are the same for different types of the disease, hemophilia A and B in men and C in women are successfully differentiated through a set of laboratory tests, including:

determination of numerical indicators of blood clotting factors;
thrombodynamics, which makes it possible to identify hemostasis disorders such as hypo- and hypercoagulation;
thrombin time, illustrating the activity of blood clotting factors;
mixed – APTT. This study allows us to identify hemostasis disorders;
temporary blood clotting test;
D-dimer analysis to exclude thromboembolism;
quantitative calculation of fibrinogen in the blood;
thromboelastography to record the processes of hemostasis and fibrinolysis;
the thrombin generation test illustrates the state of the hemostatic system.

Such an integrated approach to determining the type and severity of the disease makes it possible to select the optimal treatment to facilitate life and prolong it.

Unfortunately, this disease is incurable in our time; you can only carry out maintenance therapy and control periodically occurring symptoms. It is advisable to treat hemophilia in clinics specializing in this disease. In this case, the patient must have a “Hemophilia Patient Book”. It must contain information about the patient’s blood group, his Rh factor, type of disease and severity.

Treatment of the disease must begin, first of all, by determining its type. Further therapy is based on the introduction of missing clotting factors into the blood. They are obtained by collecting donor blood, as well as the blood of animals raised in certain conditions specifically for these purposes. But here it is important to prevent an overdose of the factor, since it can lead the patient to anaphylactic shock. Thus, the calculation should be carried out as follows: no more than 25 ml of clotting factor per 1 kg of patient weight, administered within 24 hours.

As a result of such treatment, the disease recedes for a short time, as the quantitative indicators of the elements missing for successful hemolysis are normalized. This helps prevent the development of blood loss and minimizes negative consequences.

During bleeding, based on the type of disease, doctors provide the following treatment:

for type A disease, a transfusion of dry concentrate “Cryoprecipitate”, antihemophilia, as well as fresh plasma transferred directly from the donor is performed;
for type B disease, the patient is given a concentrate of the missing clotting factor, as well as fresh frozen donor plasma;
for type C disease, it is necessary to administer dry fresh frozen plasma.

Further treatment of the disease is symptomatic:

in case of joint hemorrhages, it is important to cool the sore joint by applying a cold compress, as well as immobilize it with a plaster splint for up to 3-4 days, and remove the consequences using UHF technology;
restoration of the musculoskeletal system affected by the disease is carried out using physiotherapy, as well as achilloplasty and the synovectomy method;
uncomplicated bleeding is best treated with a state of complete rest and providing coolness for the patient;
capsular hematomas are removed surgically with parallel treatment with antihemophilic concentrates;
Treatment of external bleeding is carried out under anesthesia. The patient's wounds are cleaned of blood clots, washed with an antibacterial solution, and then bandaged with blood-stopping agents;
for hemophilia, treatment should include following a diet consisting of foods rich in vitamins A, B, C and D, as well as microelements (calcium, phosphorus), you can eat peanuts.

The most important thing when fighting a disease is prevention. Thus, families in which women have a mutated gene or men are diagnosed with this disease are not recommended to have children naturally. If a healthy woman is carrying a child from a male carrier of the disease, then at a period of 8 to 14–16 weeks after determining the sex of the baby, if it is a girl, it is recommended to terminate the pregnancy to prevent the spread of this pathology. The only way out here is to carry out the IVF procedure, carried out under certain conditions.

People with hemophilia are recommended from an early age to avoid various types of trauma; they are prohibited from engaging not only in physical labor, but also from participating in traumatic sports, such as hockey, boxing, football, etc. Of the sports disciplines, only swimming is allowed.

It is advisable to carry out preventive injections of the missing factors, but you should not often use painkillers, as addiction develops, and the body will not be able to cope with the pain on its own in the future.

With this disease, it is strictly forbidden to take blood-thinning anti-inflammatory, antipyretic and other drugs, such as Indomethacin, Aspirin, Butazolidine, Brufen, Aspirin, etc.

By carrying out prevention and treatment, hemophilia can be partially neutralized, but it is not yet possible to completely get rid of its manifestations. But people with a similar diagnosis, if they follow the instructions of a hematologist, as a rule, live to old age.

Is everything in the article correct from a medical point of view?

Answer only if you have proven medical knowledge

Hemophilia in children is a classic hereditary disease characterized by bleeding that is periodic and difficult to stop. Bleeding occurs due to a lack of certain functions of the blood coagulation system.

Forms of the disease

There are three types of hemophilia, which depend on a deficiency in the functions of the blood coagulation system. There is hemophilia A, which is characterized by a deficiency of globulin (antihemophilic) factor eight. Hemophilia B is associated with impaired blood clotting as a result of low amounts of the plasma thromboplastin component, factor nine. Hemophilia C is also distinguished; it is extremely rare and is associated with an insufficient amount of the precursor in the plasma of thromboplastin - the eleventh factor.

Hemophilia B and A are inherited. Mostly men are affected by this disease. It is often passed on to the grandson from the grandfather through the mother. Women may develop the classic form of hemophilia - homozygotes born from a mother and father who has hemophilia. But this is rare. Daughters of a person with hemophilia are mainly carriers of this disease.

Causes of the disease

Hemophilia is a hereditary disease and can only be transmitted from a carrier mother. Mothers can give birth to sick carrier girls and sick boys. But this is not necessary.

Symptoms of hemophilia

Hemophilia can appear at any age. At the earliest stages, the disease can manifest itself in bleeding of the ligated umbilical cord in infants, cephalohematoma, hemorrhage in the skin, tissue under the skin. Children under one year of age who have hemophilia may experience bleeding during teething. But generally the disease makes itself felt after a year, during the period when the child becomes more active and learns to walk. In this regard, the risk of injury increases. The bleeding is extensive, can spread, and hematomas (painful, deep bleeding between muscles) are common. They dissolve very slowly. The blood that has been shed does not thicken for a long time and remains liquid. It can easily penetrate along the fascia and into the tissue. Sometimes hematomas can be so massive that they can compress large arteries or peripheral nerve endings, which can cause gangrene or paralysis. This whole process is accompanied by severe pain.

Hemophilia is characterized by prolonged bleeding from the nose, mouth, gums, and sometimes even from the kidneys and gastrointestinal tract. Any medical procedure can also cause severe bleeding, especially intramuscular injections. Hemorrhages from the laryngeal mucosa are very dangerous. As a result, acute airway obstruction occurs, sometimes even requiring tracheostomy. The effusion of blood into the brain and its membranes can lead to death. This can also lead to complex lesions of the central nervous system.

Another sign of hemophilia is bleeding into the joints (hemarthrosis). The process is accompanied by an increase in body temperature and intense painful sensations. Mostly large joints are affected: knees, hips, elbows, ankles. After the first outpouring of blood, it gradually resolves after some time, and the joint returns to normal functioning. After repeated hemorrhages, fibrinous clots appear. They are deposited on the cartilage and on the joint capsule. After this, they become overgrown with connective tissue, resulting in ankylosis and the joint losing its functions.

In the presence of hemophilia, bleeding into the bone tissue sometimes occurs. This leads to bone decalcification and aseptic tissue necrosis. In hemophilia, it is possible to distinguish the hemorrhagic syndrome of the manifestation of the disease. It is characterized by late but acute bleeding. They appear some time after the grass, sometimes after 5-13 hours. This depends on the severity of the hemophilia and how intense the injury is.

In hemophilia, the cause of bleeding is impaired blood clotting in the first phase; thromboplastins are formed as a result of a hereditary deficiency of antihemophilic factors. With hemophilia, the time it takes for blood to clot is increased to ten to thirty minutes. In rare cases, blood may not clot for hours.

Diagnosis of hemophilia

Hemophilia is diagnosed based on the clinical picture, laboratory tests, and family history. Among laboratory tests, the following are important:

Reduced prothrombin consumption;
Slow recalcification time;
Slow blood clotting time (capillary and venous);
Reduced number of antihemophilic factors, at least one of them;
Impaired thromboplastin formation.

Treatment of hemophilia

The most important principle of treatment for hemophilia is replacement therapy. When hemophilia A begins, blood is transfused from healthy relatives, or freshly prepared citrated blood is infused. There is no point in transfusing blood that has been stored for a long time, since antihyperphilic globulin is quickly destroyed during storage. Of the antihemophilic drugs, antihemophilic globulin, antihemophilic plasma and the concentration of the antihemophilic globulin drug (cryo-precipitate) are often used; it is made from human blood plasma.

Remedies for hemophilia

If you have hemophilia C and B, then you can use canned blood; factors XI and IX are not destroyed during storage. If the patient has hemophilia B, then the drug PPSB is used; it contains factors VII (proconvertin), II (prothrombin), X (Stuart-Prower) IX (plasma thromboplastylin component). For local hemostasis, a hemostatic sponge, fibrin film, thrombin, and human milk, which contains thromboplastin, are used. If hemorrhage occurs in the joint, the patient should be completely at rest, the affected area should be kept in the cold. If the hemorrhage is massive, then a puncture of the joint is performed with the introduction of hydrocortisone into the joint cavity and aspiration of blood. Further, it is recommended to massage the affected limbs, physiotherapeutic procedures and therapeutic exercises. If the joint has lost function, then surgery is needed.

Prevention

There is no cure for this disease. It is necessary to prevent bleeding. Patients with hemophilia should be registered at the dispensary. They must also have a document indicating what type of hemophilia, what treatment was previously used and the effectiveness of its use.

If a child has hemophilia, then parents should be familiar with how to care for children with this disease and what first aid to provide. Conditions must be created for the child in which he will develop normally as a person. Patients with hemophilia cannot do physical labor, so it is necessary to develop mental abilities in the child.

The "king's disease," as hemophilia is sometimes called, is very rare. After all, the likelihood that you will encounter it in real life is quite small. But for parents whose children receive such an entry in their medical records, this is unlikely to make it any easier. And if so, it’s worth talking about hemophilia in more detail: perhaps this will help cope with the misfortune and dispel the aura of hopelessness that has formed around the disease.

Definition and possible causes

If you turn to reputable medical sources, it turns out that hemophilia is an extremely rare hereditary disease associated with a disorder of blood clotting (coagulation). What is its danger and deceit, you ask? In the most banal cuts, abrasions, visits to the dentist and any medical procedures in general. The fact is that if normally blood clots in 3-5 minutes, then with hemophilia it takes much longer, which in the most severe cases can lead to death. In other words, such patients are forced to literally walk on the edge of a knife all their lives, and the procedure of tooth extraction turns into almost a feat for them.

At the same time, the popular opinion that hemophilia is transmitted exclusively by inheritance is not an absolute truth. The fact is that in approximately 20% of cases it is not possible to detect any family connections, and the disease, although of a genetic nature, is explained by a random mutation.

The mechanism that is responsible for the transmission of hemophilia is quite complex and depends on who is the carrier of the mutant gene - a man or a woman.

The combination of “healthy father/carrier mother” gives a 25% chance that a boy born in such a marriage will be sick. The chance of having a carrier daughter is the same, and the remaining 50% is equally distributed between the birth of a healthy child, regardless of gender.

With a sick father and a healthy mother, boys will be guaranteed to be healthy, and girls, on the contrary, will become carriers.

If the father suffers from hemophilia and the mother is a carrier of the mutant gene, the situation is as follows. In a quarter of cases, a healthy son will be born, in 50% - a sick child (boy or girl), in 25% - a daughter, who, being healthy, will remain a carrier for life.

A conversation about the factors that can cause a mutation is beyond the scope of this material, and if there are no cases of hemophilia in your family (at least 2 generations back), then with some reservations you can consider yourself safe. Why with some? The fact is that the remaining 20% of cases of hemophilia occur due to spontaneous mutations, which science is not yet able to explain.

Subtleties of classification

To understand it, it is worth describing in at least a few words the mechanism of blood clotting in the most ordinary person. It must (an important note - it is “must”, not “can”!) that should involve 12 proteins, designated by numbers from I to XII. If the level of some of them is critically low (often down to zero), blood clotting is impaired. Therefore, until recently, reputable sources pointed to three main types of disease:

Hemophilia A: lack of antihemophilic globulin (factor VIII). This is what is commonly called classic.
Hemophilia B: lack of plasma thromboplastin (factor IX). An alternative name is Christmas disease.
Hemophilia C: plasma thromboplastin precursor (factor XI).

The modern classification is somewhat different from the canonical one: the third type of hemophilia is excluded from it. The reason for this is that its main symptoms, as well as its mode of inheritance, are completely different. Therefore, hemophilia C is now considered a rare blood clotting disorder - coagulopathy.

If we start not from the causes of the disease, but from the severity of clinical manifestations and the time of their appearance, the picture turns out to be as follows:

Light form. The disease manifests itself as a result of serious injuries or surgical operations, and the patient’s quality of life is close to 100%.
Medium shape. The whole complex of symptoms, leading to extensive hematomas and bleeding, occurs in childhood or adolescence.
Severe form. The diagnosis is made in the first days of life, making the prognosis very unfavorable. It is practically impossible to make any adjustments.

Symptoms and clinical manifestations

In the first few days and months of life:

Hemorrhage under the membrane that surrounds the outside of the skull bone (cephalohematoma).
Severe bleeding from the umbilical cord, which cannot be stopped for a long time.
Subcutaneous or intradermal hematomas.
The appearance of the first teeth (most often around 6-8 months) is accompanied by significant bleeding.

To be fair, it should be noted that during this period, mother's milk maintains a normal level of blood clotting, so such symptoms, if there is no special reason to suspect a problem, may go unnoticed.

After a year or two, when the baby begins to actively explore the world, the external manifestations of hemophilia begin to increase:

Painful hematomas appear even after minor falls and abrasions. They resolve poorly and respond poorly to specific therapy.
Inevitable minor injuries or minor medical procedures lead to prolonged and heavy bleeding.
Periodic nosebleeds without clearly visible causes.
Bleeding gums.
Malfunctions of the gastrointestinal tract and digestive system.
Cold symptoms (fever, chills), independent of the time of year or external factors.

Symptoms detected in a medical facility:

The presence of blood components in stool and urine.
Hemorrhages begin in large joints: knee, hip and shoulder. Most often they are accompanied by pain, fever, swelling and decreased mobility. It is important to understand that the described effects do not appear immediately, but after 8-12 hours, since at the time of injury platelets are activated.

Principles of effective diagnosis

Taking anamnesis to determine the presence of hemophilia in relatives.
An objective analysis of the patient’s complaints or (if the baby is still too small) his parents.
In-depth general examination (presence of abrasions, cuts and bruises; condition of joints and gastrointestinal tract organs).
If the preliminary diagnosis of hemophilia is confirmed, laboratory determination of the type of hemophilia.
Specialized study of blood parameters for coagulation.
Determination of the level of activity of clotting factors VII, IX and XI.
Consultation with specialized specialists: surgeon, hematologist, traumatologist, orthopedist, gastroenterologist, geneticist.

A qualified differential diagnosis is of great importance, since thrombocytopenic purpura, von Willebrand's disease or thrombosthenia (Glanzmann's disease) can be disguised as hemophilia.

Treatment

It is with regret that we have to admit that at the current level of development of medicine, there is no talk of a complete cure for hemophilia, regardless of its type. But at the same time – an important note – the popular opinion about the fatality of the disease is unfounded. Doctors have already learned how to maintain a normal standard of living for a small patient, which is why hemophilia in developed countries is no longer a sentence, but a diagnosis. What can doctors do to stabilize the situation?

Administration of missing or missing blood factors. They are most often produced by yeasts with an implanted human gene.
Injections of cryoprecipitate - a special “cocktail” based on the components of natural coagulation factors.

Also, depending on the situation, auxiliary measures are used:

Specific methods to stop bleeding.
Complete immobilization of a limb in case of injury or muscle hematomas.
The most accurate removal of loose baby teeth.
Any surgical intervention is carried out under the supervision of a hematologist with the obligatory introduction of the missing coagulation factors.
The use of special bark-stopping drugs in case of cuts, abrasions and injuries.
Plasmapheresis sessions, during which 400-500 ml of plasma are removed from the bloodstream, which, after repeated purification, are introduced back into the body.
Puncture of the damaged joint with blood extraction and injection of anti-inflammatory drugs into it. The procedure is quite painful, so it is usually performed under local anesthesia.
Consultations with a psychologist who will help parents with their child’s social adaptation

Traditional medicine recipes

Despite the fact that people have been using various tinctures and herbal preparations to treat hemophilia since ancient times, you must clearly understand the following: this disease requires mandatory medical care and cannot be treated in the acute stage with any herbal preparations. On the other hand, some plants have an obvious healing effect and are therefore suitable as maintenance therapy. Let us clarify once again: strictly after consultation with a doctor!

Women's milk. It is believed that it significantly speeds up the healing of wounds, for which you need to apply gauze soaked in it to the problem area. Let us be especially clear: this method of treatment will be effective if the baby is more than 2 weeks old.
Infusion of elecampane roots. 2 tsp. pour the crushed and purified raw materials with cold boiled water (400-500 ml) and let it brew for 8-10 hours. After this, the infusion should be filtered. Dosage regimen: 50 ml 3-4 times a day 30 minutes before meals.

Peppermint decoction. 2 tbsp. l. Pour boiling water (1 cup) over the raw material and place in a water bath for 15-20 minutes. Cool and leave for 45 minutes at room temperature. It is recommended to take 60-70 ml three times a day.

Possible consequences and complications

High risk of death even in a specialized hospital.
Immobilization of joints due to hemarthrosis.
Persistent and irreversible disability.
Numerous problems with the musculoskeletal system.
Upper respiratory tract stenosis and asphyxia.
Pathologies in the functioning of vital organs due to their compression.
Amyloidosis.
Decreased immunity, which leads to an increased risk of infection.
Pain syndrome that develops with ossification of soft tissues.
Clearly expressed problems with social adaptation.

Prevention

Science does not know any effective methods for preventing hemophilia, therefore all recommendations for organizing the regimen of sick children usually come down to listing what they should not do: run, jump, play sports, go to physical education and subject the body to even minor physical activity. How fulfilling such a “life” can be called is an open question.

But what you absolutely should not forget about is a special passport, which should contain the following information: blood type, Rh factor and type of disease. Regular visits to a pediatrician, dentist, orthopedist and hematologist are also strictly necessary. If necessary, a course of treatment in a specialized hemophilia center.

The verification of couples getting married deserves special mention. We do not consider ourselves entitled to give advice like “refuse to get married if the bride or groom is a carrier of defective genes. And even more so, we do not call for divorce. But it is possible and necessary to know about the potential presence of a problem in order to, as a last resort, be able to correct the gender of the unborn child.

Forecast

Conditionally unfavorable, although, let us remind you once again, hemophilia does not belong to the category of hopeless. With a mild form of the disease, the duration and quality of life are practically no different from those for healthy people. With moderate and severe forms, the situation is sadder, since stopping massive internal bleeding is often very difficult. Moreover, due to frequent transfusions, the risk of transmitting HIV, hepatitis and herpes increases many times over. And the immunosuppressants used in this case significantly reduce the body’s resistance.

Hemophilia is a difficult diagnosis. It will require maximum dedication, perseverance and confidence from the parents of a sick child that everything will be fine. Today, this disease is incurable, but with adequate diagnosis, organization of the child’s life and compliance with absolutely all recommendations, the likelihood of death can be significantly reduced. And the latest scientific developments inspire cautious optimism among doctors.