Hemophilia- a hereditary disease caused by a deficiency of plasma coagulation factors VIII (hemophilia A) or IX (hemophilia B) and characterized by hematoma-type bleeding.

Etiology and pathogenesis

Depending on the deficiency of blood coagulation factors, two types of hemophilia are distinguished: hemophilia A, characterized by a deficiency of antihemophilic globulin - factor VIII, and hemophilia B, accompanied by a blood coagulation disorder due to insufficiency of the plasma thromboplastin component - factor IX. Hemophilia A is 5 times more common than hemophilia B.

Hemophilia A and B (K, recessive) affects mainly men. The pathological chromosome X with the hemophilia gene is transmitted from a sick father to his daughters. At the same time, the daughters themselves do not suffer from hemophilia, since the altered (from the father) chromosome X is compensated for by the full (from the mother) chromosome X. The daughters of a patient with hemophilia serve as carriers of the hemophilia gene, passing hemophilia to half of their sons, who inherit the altered (containing the hemophilia gene) chromosome X. Sons who inherit the maternal chromosome X do not suffer from hemophilia. With hemophilia, in approximately 25% of patients it is not possible to identify a family history indicating a tendency to bleeding, which is apparently associated with a new gene mutation. This is the so-called spontaneous form of hemophilia. Having appeared in the family, it, like the classic one, subsequently becomes inherited.

The cause of bleeding in hemophilia is a violation of the first phase of blood coagulation - the formation of thromboplastin due to a hereditary deficiency of antihemophilic factors (VIII, IX). Blood clotting time in hemophilia is increased; Sometimes the patient's blood does not clot for several hours.

Clinical picture

Hemophilia can appear at any age. The earliest signs of the disease may be bleeding from a tied umbilical cord in newborns, cephalohematoma, and hemorrhages under the skin. In the first year of life, children with hemophilia may experience bleeding during teething. The disease is more often detected after a year, when the child begins to walk and becomes more active, and therefore the risk of injury increases. Hemophilia is characterized by a hematoma type of bleeding, which is characterized by hemarthrosis, hematomas, and delayed (late) bleeding.

Typical symptom of hemophilia- hemorrhages in the joints (hemarthrosis), very painful and often accompanied by high fever. The knee, elbow, and ankle joints are most often affected; less often, the shoulder, hip, and small joints of the hands and feet are affected. After the first hemorrhages, the blood in the synovial cavity gradually resolves, and the function of the joint is restored. With repeated hemorrhages, fibrinous clots form, which are deposited on the joint capsule and cartilage, and then grow into connective tissue. The joint cavity becomes obliterated and ankylosis develops. In addition to hemarthrosis, hemophilia may cause hemorrhages into the bone tissue, which leads to aseptic necrosis and bone decalcification.

Hemophilia is characterized by extensive hemorrhages that tend to spread; Hematomas often occur - deep intermuscular hemorrhages. Their resorption occurs slowly. The spilled blood remains liquid for a long time, so it easily penetrates the tissues and along the fascia. Hematomas can be so large that they compress peripheral nerve trunks or large arteries, causing paralysis and gangrene. In this case, intense pain occurs.

Hemophilia is characterized by prolonged bleeding from the mucous membranes of the nose, gums, oral cavity, and, less commonly, the gastrointestinal tract and kidneys. Any medical manipulation, especially intramuscular injections, can lead to severe bleeding. Bleeding from the mucous membrane of the larynx is dangerous, as it can lead to acute obstruction of the airways, which may require tracheostomy. Tooth extraction and tonsillectomy lead to prolonged bleeding. Hemorrhages in the brain and meninges are possible, leading to death or severe damage to the central nervous system.

A feature of hemorrhagic syndrome in hemophilia is the delayed, late nature of bleeding. Usually they do not occur immediately after injury, but after some time, sometimes after 6-12 hours or more, depending on the intensity of the injury and the severity of the disease; This is due to the fact that the primary stop of bleeding is carried out by platelets, the content of which is not changed.

The degree of insufficiency of antihemophilic factors is subject to fluctuations, which determines the periodicity in the manifestations of bleeding. The severity of hemorrhagic manifestations in hemophilia is associated with the concentration of antihemophilic factors.

Forms of hemophilia depending on the concentration of antihemophilic factor

Forms of hemophilia	Antihemophilic factor concentration, %
Moderate
Latent
Subclinical

Diagnosis and differential diagnosis

Diagnosis of hemophilia is based on family history, clinical picture and laboratory data, among which the following changes are of leading importance.

Increased duration of capillary and venous blood clotting.

Slowing down the recalcification time.

Impaired thromboplastin formation.

Reduced prothrombin consumption.

Decrease in the concentration of one of the antihemophilic factors (VIII, IX).

The duration of bleeding and platelet count in hemophilia are normal, tourniquet, pinch and other endothelial tests are negative. The peripheral blood picture has no characteristic changes, with the exception of more or less pronounced anemia due to bleeding.

Hemophilia is differentiated from von Willebrand disease, Glyantzmann thrombasthenia, and thrombocytopenic purpura.

Treatment

The main method of treatment is replacement therapy. Currently, concentrates of blood coagulation factors VIII and IX are used for this purpose. Doses of concentrates depend on the level of factor VIII or IX in each patient and the type of bleeding.

For hemophilia A, the most widely used concentrated preparation of antihemophilic globulin is cryoprecipitate, which is prepared from fresh frozen human blood plasma.

For the treatment of patients with hemophilia B, a complex drug PPSB is used, containing factors II (prothrombin), VII (proconvertin), IX (plasma thromboplastin component) and X (Stuart-Prower).

All antihemophilic drugs are administered intravenously as a bolus, immediately after their reconservation. Taking into account the half-life of factor VIII (8-12 hours), antihemophilic drugs are administered for hemophilia A 2 times a day, and for hemophilia B (half-life of factor IX 18-24 hours) - once a day.

For hemorrhages in the joint during the acute period, complete rest and short-term (3-5 days) immobilization of the limb in a physiological position are necessary. In case of massive hemorrhage, it is recommended to immediately perform a puncture of the joint with aspiration of blood and injection of hydrocortisone into the joint cavity. In the future, light massage of the muscles of the affected limb, careful use of physiotherapeutic procedures and therapeutic exercises are indicated. If ankylosis develops, surgical correction is indicated.

Intensive replacement transfusion therapy in patients with hemophilia can lead to isoimmunization and the development of inhibitory hemophilia. The emergence of inhibitors against factors VIII and IX of blood coagulation complicates treatment, since the inhibitor neutralizes the administered antihemophilic factor, and conventional replacement therapy is ineffective. In these cases, plasmapheresis and immunosuppressants are prescribed. However, the positive effect does not occur in all patients. Complications of hemostatic therapy when using cryoprecipitate and other agents also include infection with HIV infection, hepatitis with parenteral transmission, cytomegalovirus and herpetic infections.

Prevention

The disease is incurable, primary prevention is impossible. Prevention of bleeding is of great importance. Intramuscular administration of drugs should be avoided due to the risk of hematomas. It is advisable to administer medications orally or intravenously. A child with hemophilia should visit the dentist every 3 months to prevent possible tooth extraction. Parents of a patient with hemophilia need to be familiarized with the features of caring for children with this disease and the principles of providing them with first aid. Since a patient with hemophilia will not be able to engage in physical work, parents should develop in him a penchant for intellectual work.

Forecast

The prognosis depends on the severity of the disease, timeliness and adequacy of therapy.

Hemophilia is a congenital disorder of the blood coagulation system. From birth, patients with hemophilia lack (or are present in extremely small quantities) special proteins responsible for blood clotting - clotting factors.

Hemophilia is a hereditary disease that affects only men, although women are carriers of the defective gene. Coagulation disorders are caused by a lack of a number of plasma factors that form active thromboplastin. More often than others, antihemophilic globulin is missing. The cause of hemophilia is the presence of a “bad” mutation in the sex X chromosome.

This means that there is a certain section (gene) on the X chromosome that causes such a pathology. This altered gene on the X chromosome is the actual mutation (recessive). Due to the fact that the mutation is located on the chromosome, hemophilia is inherited, that is, from parents to children.

The tendency of the human body to prolonged hemorrhages and bleeding is called hemophilia and this disease belongs to the group of hemorrhagic diathesis (from “hemorrhage” - bleeding and “diathesis” - predisposition). Bleeding in hemophilia occurs completely spontaneously, for no apparent reason, and is difficult to stop using conventional means.

Hemophilia gene

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.

How is the hemophilia gene inherited?

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 hemostasis system occurs in the event of vascular damage and 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.

Hemophilia types A and B

There are several types of hemophilia, but the most common are

• Hemophilia A – factor VIII deficiency
• Hemophilia B – factor IX deficiency

According to statistics, 1 child out of 10,000 is born with hemophilia A, hemophilia B is 6 times less common. In approximately 1/3 of families, hemophilia is discovered for the first time.

Hemophilia A is a recessive mutation on chromosome X. Thus, hemophilia type A is caused by a genetic defect. Hemophilia in this case occurs as a result of the absence of antihemophilic globulin (defective blood factor VIII) in the blood. Antihemophilic globulin is a protein necessary for normal life. Hemophilia A can be called classical, since hemophilia of this type is much more common than others and is observed in 80-85% of cases of all hemophilia diseases.

Hemophilia B is a recessive mutation on the X chromosome. Hemophilia type B is caused by the presence of defective blood factor IX. In this type of hemophilia, the formation of a secondary coagulation plug is impaired.

Signs of hemophilia

The disease manifests itself in childhood with prolonged bleeding from minor injuries. Nosebleeds, hematuria - blood in the urine, large hemorrhages, hemarthrosis - blood in the joint cavity may occur. The main signs of hemophilia: prolongation of clotting time, shortening of prothrombin time.

The most common symptoms of hemophilia are listed below. However, each patient's disease may have individual characteristics.

spontaneous bruising: Bruises occur due to minor injuries and can form large hematomas (more collection of blood under the skin);

bleeding tendency: frequent nosebleeds, bleeding gums after brushing teeth, visits to the dentist, minimal damage;

intra-articular bleeding: hemarthrosis (bleeding in the joints) is accompanied by pain, swelling, stiffness of the joints and leads to their deformation if medical intervention is not performed in time - this is the most common manifestation of hemophilia;

severe bleeding from injuries and cerebral hemorrhages: severe bleeding from injuries and spontaneous cerebral hemorrhages are the most serious manifestations of hemophilia and the most common cause of death in patients;

other signs of increased bleeding: Finding blood in urine and stool can sometimes also be a symptom of hemophilia.

Treatment of hemophilia

The main method of treating hemophilia is replacement therapy.

Currently, concentrates of blood coagulation factors VIII and IX are used for this purpose. Doses of concentrates depend on the level of factor VIII or IX in each patient and the type of bleeding. For hemophilia A, the most widely used concentrated preparation of antihemophilic globulin is cryoprecipitate, which is prepared from fresh frozen human blood plasma. For the treatment of patients with hemophilia B, a complex drug PPSB is used, containing factors II (prothrombin), VII (proconvertin), IX (plasma thromboplastin component) and X (Stuart-Prower).

All antihemophilic drugs are administered intravenously as a bolus, immediately after their reconservation. Taking into account the half-life of factor VIII (8-12 hours), antihemophilic drugs are administered for hemophilia A 2 times a day, and for hemophilia B (half-life of factor IX 18-24 hours) - once a day. For hemorrhages in the joint during the acute period, complete rest and short-term (3-5 days) immobilization of the limb in a physiological position are necessary. In case of massive hemorrhage, it is recommended to immediately perform a puncture of the joint with aspiration of blood and injection of hydrocortisone into the joint cavity. In the future, light massage of the muscles of the affected limb, careful use of physiotherapeutic procedures and therapeutic exercises are indicated. If ankylosis develops, surgical correction is indicated.

Intensive replacement transfusion therapy in patients with hemophilia can lead to isoimmunization and the development of inhibitory hemophilia. The emergence of inhibitors against factors VIII and IX of blood coagulation complicates treatment, since the inhibitor neutralizes the administered antihemophilic factor, and conventional replacement therapy is ineffective.

In these cases, plasmapheresis and immunosuppressants are prescribed. However, the positive effect does not occur in all patients. Complications of hemostatic therapy when using cryoprecipitate and other agents also include infection with HIV infection, hepatitis with parenteral transmission, cytomegalovirus and herpetic infections.

The disease hemophilia is extremely dangerous, especially in childhood and adolescence, when the correct diagnosis has often not yet been made and without medical support there is a real risk of death. Timely access to a doctor in case of hemophilia in childhood is a measure of the favorable course and stabilization of the child’s body condition.

Prevention of bleeding in hemophilia

A medical worker observing a patient with hemophilia must instruct him (and more often the parents of a sick child) in detail about the routine of his whole life - games, studies, physical education. It should help in choosing the most suitable future profession that is not associated with the possibility of injury and excessive physical stress.

In all these recommendations, you need to find a “golden mean” - an unlimited free regime creates the danger of traumatic injuries and severe bleeding; on the other hand, excessive restrictions cause a delay in the child’s development, traumatize his psyche, and instill in him the idea of ​​his own inferiority.

Patients with hemophilia should be under constant medical supervision. Each person is given a special “hemophilia patient book”, which indicates the blood type, Rh, the form of hemophilia, its severity, and recommendations in case of exacerbation. This document must always be carried with you, so that in the event of a sudden complication, the physician to whom the patient is admitted can quickly provide him with the necessary assistance.

On the other hand, all medical workers, when providing emergency care for injuries and bleeding, must constantly remember the possibility that the patient may have hemophilia. Warning symptoms in this regard are deformities of the joints, in particular the knees and elbows, stiffness and contractures in them, and “bruises” on the body.

At the slightest suspicion of hemophilia, you need to collect a detailed history of bleeding in the past from the patient and his relatives. In case of reasonable suspicion of hemophilia, a patient who has been injured or has started bleeding should be sent to the hospital. There, the diagnosis of hemophilia will either be definitively established or rejected. Outpatient treatment or treatment at home is contraindicated in such cases.

Diagnosis of hemophilia

Significant assistance in the diagnosis of hemophilia is provided by identifying the nature of inheritance. The presence of a sex-linked hemorrhagic diathesis is convincing evidence of the presence of hemophilia in the family. This type of inheritance is characteristic of both hemophilia A and hemophilia B (factor IX deficiency), which can be differentiated using laboratory testing.

Tests characterizing the platelet component of hemostasis: platelet count, duration of bleeding and adhesive-aggregation parameters in patients with hemophilia are within normal limits.

Characteristic laboratory signs of hemophilia are disturbances in indicators that evaluate the internal pathway of activation of blood coagulation, namely: an increase in the clotting time of venous blood (may be within normal limits if the activity of factor VIII or IX is above 15%), an increase in aPTT along with normal prothrombin and thrombin times .

A decrease in the coagulation activity of factor VIII or IX is a decisive criterion for the diagnosis and differentiation of hemophilia A or B.

Differential diagnosis

Hemophilia A, especially moderate forms of the disease, should be differentiated from von Willebrand disease, which is also characterized by a decrease in the activity of factor VIII, but there is an increase in bleeding time, impaired platelet aggregation with ristomycin, which is associated with a deficiency or qualitative defect of von Willebrand factor.

Severity of hemophilia

Experts distinguish three degrees of severity of hemophilia, which are determined depending on the level of activity of the deficient blood clotting factor. It is calculated as a percentage, focusing on the average normal coagulation activity, taken as 100%.

In those patients who suffer from severe hemophilia, the level of activity of this factor is less than 1%. In this case, bleeding can be either spontaneous or caused by the most minor injury.

If the disease is characterized by an average (moderate) severity, then the level of the clotting factor does not exceed 5%. If it is higher, then the disease is mild, bleeding in this case is caused only by injuries.

Approximately 70% of all hemophilia patients suffer from severe to moderate forms of the disease. This requires regular (several times a year or even a month) treatment for bleeding that occurs.

The severe form of the disease is usually diagnosed early - in the first year of life, and the moderate form - in early childhood. Mild cases are usually diagnosed only after serious injury or surgery.

Questions and answers on the topic "Hemophilia"

Question:Hello, I have a suspicion that my son is a hemophiliac. He developed two bruises that were black and hard throughout. What kind of bruises do hemophiliacs have?

Answer: Hello! Bruises on the body can form due to many diseases, including hemophilia. However, in the presence of bruises alone, an accurate diagnosis cannot be made. In order to exclude the presence of hemophilia, it is necessary to conduct appropriate laboratory blood tests.

Question:Tell me, what painkillers can be used for hemophilia?

Answer: If severe pain associated with hemorrhage occurs, then first of all it is necessary to administer factor VIII concentrate preparations (for hemophilia A) at the rate of 30-40 units per 1 kg of body weight. The frequency of administration should be 2 times a day. Duration - until complete resorption of the hematoma or hemarthrosis. Of the available painkillers, the most pronounced effect will be with drugs such as tramadol, nalbuphine, and acupan. They must be administered subcutaneously or intravenously. The analgesic effect will be enhanced when combined with baralgin, diphenhydramine, and sibazon. For pain of moderate intensity, drugs containing codeine - solpadeine and the like - will help. For joint pain, against the background of factor replacement therapy (!), it is permissible to take short courses (up to 3-5 days) of non-steroidal anti-inflammatory drugs - Celebrex, Advil, indomethacin, Voltaren, diclofenac. It is advisable to give preference to drugs produced in European countries or the USA. However, it is better if the painkiller is prescribed to you by an experienced doctor!

Question:My 2-year-old son has hemophilia. Where and how can I check my 5-year-old daughter for carrier status?

Answer: There are 2 ways to check: 1. Determine the activity (level) of factor VIII in a suspected carrier. If the activity of the factor is reduced by half, carriage can be assumed. But, if the factor is normal, this does not 100% prove the absence of carriage. 2. A more reliable method is genetic. This method can determine the presence of a mutation in the gene that is responsible for factor VIII.

Question:My mother has a half-brother (different fathers) who has hemophilia. Am I a carrier of this gene?

Answer: There is a possibility that you may be a carrier of hemophilia since your grandmother was a carrier, and with a probability of about 1:4 she could pass the gene to your mother. If this happens, then the probability that you are a carrier is also 1:4.

Question:I am a carrier of the hemophilia gene. I want to give birth. If I do IVF, then only female embryos will be transplanted into me. There is no guarantee that they will take root. How many embryo transfer attempts can be made in a year? If I get pregnant naturally, I heard that at 8-9 weeks they will insert a long thin needle into me. If there is a hemophilic boy, then abortion. Next is the restoration of the body, another attempt. How long after an abortion can I get pregnant again? What is less likely to cripple my body? IVF or possible abortions? I have negative Rh. I am 30 years old. There were 2 pregnancies, one was frozen, the second was childbirth (independent).

Hemophilia is a pathology that is inherited from generation to generation and is characterized by reduced blood clotting. Only women are carriers of hemophilia, and it is mainly men who suffer from it.

There are two main types of hemophilia. This pathology is based on damage to the gene of the female sex chromosome, which is responsible for the formation of antihemophilic globulin (factor VIII) and Christmas disease (factor IX). There is also hemophilia C, which is characterized by factor XI deficiency. This type of hemophilia is very rare and occurs in 5% of cases in women. Since hemophilia is based on bleeding, as a result of a congenital pathology, it lasts much longer than in healthy people.

Hemophilia causes

The hereditary factor is the main reason that provokes the development of hemophilia. When making a diagnosis, special attention is paid to medical history, hematoma type of bleeding and laboratory tests.

Hemophilia is transmitted at the genetic level and is characterized by defective blood clotting. When diagnosing, special attention is paid to platelet clotting time. Severe forms of hemophilia are characterized by a longer duration of this time and a reduced consumption of prothrombin. If a patient’s blood defect can be eliminated with plasma that has previously been adsorbed with barium sulfate, and after that an antihemophilic factor is found to be present in it, but factor IX is absent, then a diagnosis of hemophilia A is made. When a pathological disorder in the blood can be eliminated with normal serum, then a diagnosis of hemophilia A is made. second type of hemophilia (B).

Hemophilia of two types, A and B, is inherited as an X-linked recessive type. Women usually have two X chromosomes, while men only have one. Therefore, when boys receive an X-linked damaged gene from their mother, they cannot replace it with any other chromosome, since they have only one Y chromosome. Therefore, hemophilia mainly affects boys, then it is passed on from them to their future daughters, who become carriers of the affected gene. Research shows that almost 80% of mothers whose sons have hemophilia are carriers of this disease. And only in very extreme cases does hemophilia affect women.

In addition, when examining a certain percentage of the mothers of those boys who suffer from hemophilia, no gene mutation was found, which meant that they were damaged already in the process of forming parental germ cells. Thus, hereditary pathology can appear even if the parents do not have genes carrying hemophilia.

Therefore, in order to completely break this pathological chain, it is necessary to apply rather strict advice from geneticists and plan future offspring with special care. Using the recommendations of modern geneticists, women who are carriers of the affected gene should not give birth to children at all. For those families in which the men have hemophilia and the women are healthy, it is advisable to give birth to only boys. And for women who are pregnant with girls, they offer an artificial abortion procedure.

Currently, scientists are developing methods to solve problems that could eliminate the cause of hemophilia in the future. But for now it is very difficult to do this, because everything is at the genetic level, that is, in the human gene. Therefore, patients need to learn to live in a society with such a disease and always be very careful and gentle with themselves. Because, when suffering from hemophilia, the risk of death of the patient as a result of hemorrhages in the meninges or other organs, no less important, can sharply increase, even with the slightest injury.

Hemophilia gene

Recently, significant discoveries have been made in the biochemical field of hemophilia, which help to observe, diagnose and treat hemophilia.

Today it has already been proven that the deficient factor VIII, present in hemophilia A, and the von Willebrand factor (B), which is at a high molecular point, differ from each other in enzymes and are found in the blood in the form of unrelated complexes. The content of factor VIII in plasma is much less than factor B, which is why it is the carrier of a protein that is very necessary for the secretion of antihemophilic globulin and its protection from destruction.

Back in 1984, geneticists identified the gene that is responsible for the formation of factor VIII and elucidated its structure. It is located on the arm of the X chromosome, which consists of twenty-six exons and twenty-five introns. This gene is known as one of the largest human genes. Its structure contains three type A domains, two C domains and one B domain, which is rich in carbohydrates. It is antihemophilic globulin (f VIII) that plays a major role in blood clotting as a non-protein substance and, thus, accelerates the action of factor X.

The gene, which is located on the long arm of the X chromosome, in section IX, is a consequence of hemophilia B, and is also formed in the liver with the participation of vitamin C. A, as a result of a deficiency in the activity of both factors, a blood clotting disorder occurs, which becomes a consequence of prolonged bleeding.

Thus, we can conclude that the HEMA gene encodes antihemophilic factor A, which is fixed on platelets, synthesized in the liver with the participation of vitamin K and takes part in the formation of thromboplastin. In Christmas disease (hemophilia B), a deficiency of the plasma thromboplastic component also leads to poor blood clotting.

Signs of hemophilia

The clinical manifestations of hemophilia A do not differ from the second type of hemophilia B. This disease is characterized by manifestations of bleeding in the form of hemorrhages in the joints of the extremities, subcutaneous, intramuscular and intermuscular hematomas, heavy bleeding of a prolonged nature during injuries, after manipulations. Bleeding from the gastrointestinal tract, intracranial hemorrhages, retroperitoneal hematomas, hematuria and hemorrhages into the abdominal cavity are somewhat less common.

Hemophilia is characterized by age-related symptoms of the disease. In very difficult moments when a child is born, even in the maternity hospital, cephalohematomas and bleeding of the umbilical wound can be observed.

Very often, the first symptoms of hemophilia are detected in connection with bleeding that appears after manipulations in the form of injections, punctures, and surgical operations.

The first manifestations of hemorrhages in the joints can be seen when the child begins to crawl and then walk. The knees, elbows, legs and feet are primarily affected; less commonly, the hip and shoulder joints are affected. But hemarthrosis occurs, as a rule, without visible injuries, but the joints become painful, hot, rigid and bent. Pain prevents movement.

Hemorrhages in the joints, at first glance, are harmless. The blood is gradually reabsorbed, swelling disappears, and joint functions are restored. No changes are observed during X-ray examination. But after frequent such hemorrhages, the joint capsule thickens and changes its color. Subsequently, the inflammatory process in it increases. At later stages, arthropathy is expressed by characteristic fibrosis of the capsule and soft tissues that surround the joint, which leads to restrictions in its mobility. Articular cartilage changes and, after repeated hemorrhages, is destroyed under the influence of active enzymes and collagenases. In very severe forms of arthropathy, mobility and ankylosis are completely lost. And if replacement therapy is not used, then patients face a wheelchair or crutches.

Various types of diseases quite often cause bleeding from the gastrointestinal tract. The most common among them are various types of erosion in the stomach and duodenum, as well as varicose veins in the esophagus and hemorrhagic nodes, which can be caused by taking non-steroidal drugs. Sometimes such bleeding can occur spontaneously.

But heavy renal bleeding creates serious therapeutic problems, which are diagnosed in patients with hemophilia. They occur in almost 20% of patients. These types of bleeding occur both unexpectedly and as a result of injuries in the lumbar region, with existing bleeding, as well as after taking aspirin or non-steroidal drugs.

During hematuria, the patient experiences attacks associated with impaired urination and acute pain in the lumbar region, as a result of which blood clots form in the urinary tract, which can cause a. Everyone knows that such renal hemophilia hemorrhages are much more difficult to treat than hemorrhages in other locations.

Hemophilia in children

In children with hemophilia, disorders associated with platelet functions have not been fully studied. The clinical picture of hemophilia is characterized by a typical course and repeated hemorrhages in the form of hematomas and hemarthrosis. Basically, the first symptoms of severe hemophilia appear in most children before the end of the first year of life. But recently, thanks to the use of prenatal diagnostics using modern equipment, it has become much more common to diagnose fetal pathology even before birth.

In the first place in the clinical picture of newborns are bleeding that appears from the umbilical wound, injection sites, as well as small hematomas, which then appear under the skin and in different areas of the mucous membranes.

Joint hemorrhages typically occur in children aged two or three years. In some young patients, along with hemarthrosis and hematomas, ecchymoses are also observed, which appear unexpectedly or during minor physical exertion, which is not characteristic of hemophilia.

Children of preschool age and school age very often complain of bleeding from the gums and nose, which are recurrent. There are also occasional hematuria.

Hemarthrosis (extensive bruises) is a common problem in sick children, which develops chronic forms of synovitis, arthropathy and contractures. Therefore, such children are prohibited from any intramuscular injections, since this manipulation can lead to not very intense, but at the same time, bleeding that does not stop for a long time. It is preferable to give vaccinations and administer medications only subcutaneously, using a thin needle.

During internal bleeding, blood is found in the child’s stool during examination. And this already speaks of the beginning of the patient. In young children, bleeding associated with the urinary tract is quite rare, but the incidence of hematuria sometimes increases over the years. In addition, bleeding appears in the internal organs.

Hemorrhages in the membranes of the brain are considered rare, but deadly, and can cause severe organic damage to the central nervous system in a child. This is characterized by the predominance of excitation processes over inhibition. Such children behave undisciplinedly and may play pranks. According to external data, they have a fragile physique and their appetite is reduced. The internal organs do not change at the time of bleeding.

As children age, complications are more common. And all this is due to decreased immunity as a consequence of the underlying disease. Hemophilia can lead to hemolytic anemia, leukopenia, thrombocytopenia and kidney inflammation, which turns into renal failure, and this is a disability.

Hemophilia in women

This type of disease is extremely rare among girls and women, and therefore there are very few clinical descriptions of hemophilia in women.

Hemophilia in the weaker sex occurs only when patients, father and mother, pass on the affected gene to the girl. Theoretically, such parents can, in the same proportion, give birth to both a girl who is a carrier of the disease, and a girl with obvious clinical symptoms, or a sick boy with hemophilia, and also, on the contrary, an absolutely healthy one.

One of the most common pathologies of blood clotting in girls and women is considered to be about one percent of patients. These are mostly US women.

Hemophilia in women indicates a deficiency of von Willebrand factor, which must produce a special protein necessary for blood clotting. There are other types of disorders that lead to bleeding. Shereshevsky-Turner syndrome is diagnosed when it is possible to determine monosomy on the X chromosome in full or partial form. But it is used when determining risomia.

Since hemophilia mainly occurs in four clinical forms, such as mild, erased, moderate and severe, only a mild course of the disease is detected in girls and women. Such women have a tendency to nosebleeds and have heavy menstruation. Minor surgeries, such as tooth extraction or tonsillectomy, can also lead to bleeding that is difficult to stop.

Hemophilia in men

Poor blood clotting is transmitted to boys through practically healthy mothers, who are the conductors of the pathologically altered gene.

Parents notice the first manifestations of hemophilia in childhood and are characterized by small bleeding that can occur after various types of injuries. This could be bruises, tooth extraction, etc. But bruises already indicate more serious hemorrhages under the skin and into the muscles. Such hematomas cause tissue necrosis due to compression of the vessels that supply them with nutrition. An infection that gets into them can cause such a serious illness as sepsis. Hemorrhages that lead to bone necrosis occur in the bone tissue. Sometimes hematomas can be very large and even cause gangrene or paralysis.

When performing any surgical intervention, a patient with hemophilia must be administered antihemophilic drugs to avoid severe blood loss.

Hemorrhages in the meninges are considered dangerous, which, as a rule, cause the death of the patient or severe damage to the central nervous system.

The most difficult bleeding in men is considered to be retroperitoneal, which stimulates the occurrence of acute surgical diseases in the peritoneal area. Often developing posthemorrhagic anemia is observed after gastrointestinal, nosebleeds, as well as from the urinary tract and gums.

Hemarthrosis, that is, joint hemorrhages, is usually accompanied by an elevated body temperature above 38˚ and their pain. Often recurrent hemorrhages in the joints cause the development of osteoarthritis, which leads to limited movement in all joints and atrophy of the muscles of the limbs, which can later lead to a wheelchair. The joints of the knees and elbows are affected first, and then the smaller ones.

Bleeding from the mucous membranes in the throat or larynx area is also considered dangerous. This often occurs during a bout of coughing, screaming, or even tense vocal cords, resulting in airway obstruction.

Hemophilia treatment

The main point in the treatment of patients with hemophilia is the ability to compensate for the deficiency of blood clotting factor. Sometimes surgical interventions are simply necessary to treat complications that can be caused by hematomas, hemarthrosis and contractures. All these surgical interventions require a special approach.

It is important to begin treatment of hemophilia at the first signs of bleeding. If it is started later, then a certain specialized course of treatment will have to be used.

Immediately, patients with hemophilia are administered native plasma or lyophilized, whole blood or preparations containing concentrates of factors VIII and IX. To achieve the required level of antihemophilic factor in the blood, it is necessary to administer plasma and blood in sufficient volumes. But it is important to take into account that they should not exceed 25 ml/kg of human body weight in 24 hours. Since repeated infusions in large volumes can lead to the formation of antibodies to factors VIII and IX and disrupt kidney function.

It is much more effective to use Cryoprecipitate in the treatment of hemophilia. It is in the form of a standard dry concentrate and is well preserved at room temperature, and is also easy to transport. All drugs during hematransfusion are administered intravenously and the administration is repeated every 8–12 hours, taking into account that in a diluted form it does not last long.

When monitoring transfusion therapy, monitor the quality of factor VIII in the blood. To stop moderate hemorrhages, the level of f VIII should be increased to 20%, and for this, antihemophilic plasma is administered at a dosage of 10–15 ml/kg of the patient’s body weight. During severe bleeding, the calculations are doubled and cryoprecipitate, as well as other concentrates, are administered at 20–30 ml/kg or more.

For external bleeding, local anesthesia and treatment are used. To do this, the wounds are cleaned of clots and washed with penicillin, diluted with physiological NaCl solution. Then gauze bandages with hemostatic agents are applied. This can be Adrenaline, Hydrogen Peroxide, human or animal blood serum.

For patients with hemophilia A, blood from the donor is used directly during transfusions, since as a result of storage in it, the process of destruction of antihemophilic globulin occurs. But donor blood is absolutely suitable for hemophilia B, because it contains a sufficient amount of thromboplastin.

For the treatment of hemophilia types B and C, a good effect is achieved using human serum and exilon-aminocaproic acid (up to 100 ml of a 5% solution is administered to older children three or four times a day).

Hematomas that are in capsules are removed surgically. And at the same time, concentrates of antihemophilic factors are used in treatment. Gastrointestinal bleeding is stopped by using large doses of these concentrates with aminocaproic acid.

To restore the affected musculoskeletal system, it is necessary to treat hemophilia in a complex. And for this, various methods of synovectomy, achilloplasty and physiotherapy are used. For joint hemorrhages without complications, it is necessary to maintain rest and apply cold compresses to the sore spot. Then such a joint is fixed with a plaster splint for up to four days, and then UHF procedures are prescribed.

Basically, symptomatic treatment of hemophilia is used for patients with hemarthrosis. First of all, it is important to immobilize the affected joints, prescribe non-steroidal anti-inflammatory drugs and apply glucocorticoids locally.

To stop bleeding in patients with an inhibitory form of hemophilia, large doses of concentrates are administered simultaneously with plasmaphoresis. This allows for effective treatment, but there is a risk of developing thrombosis. Increased transfusion can cause infection of the patient with hepatitis B and lymphotropic viruses.

Prevention of bleeding remains important, and for this it is necessary to avoid injuries and cuts from childhood. And it is also advisable to make intravenous injections with concentrate f VIII once every ten days, and for hemophilia B, this is concentrate IX every 15 days, 15 units / kg.

The diet of patients with hemophilia should contain vitamins A and the entire group of vitamins B; C and D, phosphorus and Ca. In addition, doctors recommend eating peanuts. Prohibited drugs include: Analgin, Asririn, Brufen, Butazolidines, Indomethacin.

It should be noted that during periods of exacerbation of hemophilia symptoms, severe attacks of pain are observed. But frequent use of painkillers can lead to a certain dependence. Therefore, constantly used factor concentrates from an early age eliminate dependence on analgesics.

Hemophilia is currently not completely curable, but it can still be gradually controlled with injections. Patients suffering from hemophilia, with proper treatment, live to old age.

If the disease is incurable and the use of primary prevention is impossible, then it is necessary to prevent the occurrence of bleeding. And to do this, you should try not to administer drugs intramuscularly in order to prevent the appearance of hematomas. It is advisable to prescribe medications only intravenously or orally. It is necessary to contact the dentist for preventive maintenance, every three months, to avoid tooth extraction.

Since hemophilia patients cannot engage in physical labor, it is necessary to develop intellectually.

People diagnosed with hemophilia are recommended to undergo clinical examination and observation by a hematologist. Those diagnosed with a mild form of hemophilia are examined only once a year. Doctors also prescribe vaccines against hepatitis A and B. Replacement therapy is carried out using highly active, doubly virus-inactivated concentrates. During acute forms of bleeding, treatment begins no later than three hours after the injury. The therapy itself must contain adequate amounts to completely stop bleeding.

Patients are absolutely prohibited from engaging in sports such as boxing, football, volleyball, hockey, basketball; You can only visit the swimming pool.

Since hemophilia is a congenital hemorrhagic disease and has certain problems in diagnosis, it requires expensive treatment. Side effects occur during replacement therapy, in addition, problems of a psychological and social nature are observed, therefore, in order to provide medical assistance for this type of disease, special measures must be taken. For this purpose, treatment should be carried out exclusively in specialized clinics.

Each patient carries with him a “Hemophilia Patient Book”, where the blood type, Rh factor, type of hemophilia, and its severity are recorded. It also keeps all records of the therapeutic and preventive measures taken and the doctor’s recommendations at the time of exacerbations.

It is also necessary to remember and be sure to take into account that all patients with hemophilia are at risk for HIV (AIDS) and hepatitis, since drugs that are prepared from the blood of donors are widely used in their treatment.

In some countries, specialized educational institutions have already been created that accept children with hemophilia. There they receive not only an education, but also master the skills of feasible professions. In addition, specially designed and conducted therapeutic exercises help children strengthen their muscles, joints and bones in order to teach them in the future to prevent hemorrhagic relapses.

But nevertheless, among the most important preventive measures remains a medical consultation with a geneticist before planning a pregnancy. If special examination methods reveal the hemophilia gene in a woman, she is advised not to have children, having first explained all the consequences of this disease.

Hemophilia is a hereditary disease associated with a disorder of blood clotting. A person who tries to be in the “medical trend”, who does not miss a single program about health, from the pop creations of Elena Malysheva and Sergei Agapkin to the wonderful series of films on the Discovery Channel (although it would be better in reverse order), will most likely be about hemophilia not much is known. The story of Grigory Rasputin’s healing of Tsarevich Alexei and vague memories of the times of school science lessons - this is at best. What can you do, hemophilia is not popular among the people; it is a very rare disease, nothing like a sore throat. This means it’s time to paint over the white spots of ignorance with the bright palette of knowledge. Moreover, there is something attracting interest in genetic diseases. Perhaps the reason for this is the aura of fatalism that accompanies any hereditary deviation. After all, if a person becomes infected with the same notorious runny nose simply by being in the wrong place at the wrong time, or due to his own carelessness, then in the case of genetic abnormalities there is no fault of the person himself. The stars just came together, or, which is closer to our topic today, the chromosomes.

Hemophilia: what is it?

How does the chromosomal solitaire of hemophilia work out? As you know, our body is represented by a host of different cells. The basis of the cell - its nucleus - determines the individual development of each person. The repository of this hereditary information in the nucleus is paired thread-like structures - chromosomes. What is the most obvious personal characteristic of an individual? That's right, his sex, which is determined by a specific pair of chromosomes, designated by the letters X and Y. Female cells contain an XX chromosome pair, male cells - XY. Each parent passes on one chromosome from this pair to their unborn child, thereby creating a “gender solitaire” that determines the sex of the baby. Thus, through a pair of simple mathematical pairs, four probable combinations of parental chromosomes are obtained, two of which doom the future creation of the human race to bear the male cross, and the other two predetermine the birth of a homemaker.

The structural unit of a chromosome is the gene. The gene composition of the X chromosome, in addition to determining the sex of a person, is also responsible for the formation of blood clotting factors VIII, IX, XI.

For reference: blood clotting factors are a group of substances, mainly proteins, contained in blood plasma and platelets and ensuring blood clotting.

By inheriting a sex chromosome with defective genes, a hemophiliac also acquires problems with blood clotting factors, which in turn is fraught with severe bleeding.

The likelihood of hemophilia is much higher in males, because... in women, even if they have one chromosome with hemophilic genes, the second X chromosome will be able to ensure the production of the required number of clotting factors. Men have only one X chromosome, and if gene problems are detected in it, then good luck: he will suffer from prolonged bleeding. because his second sex Y chromosome is not involved in the production of blood clotting factors.

The mechanism of inheritance of hemophilia if the mother is a carrier of the disease. With a father suffering from hemophilia, all daughters will be carriers of this disease. Sons (provided their mother is healthy) will not have any problems with blood clotting. If blind fate brings a hemophiliac man together with a woman who is a carrier of this disease (with one normal X chromosome and one defective one), then hemophilia can manifest itself not only in their potential son, but also in their daughter. Most often, this situation is typical for consanguineous marriages.

Types of hemophilia

Hemophilias are differentiated depending on the absence (or insufficient activity) of a specific coagulation factor:

• in the absence of coagulation factor VIII called antihemophilic globulin develops hemophilia A: the most common type of hemophilia;
• in the absence of blood coagulation factor IX (an alternative name is Christmas factor) develops hemophilia B;
• in the absence of blood coagulation factor XI, the rarest type of this hereditary disease develops - hemophilia C.

All of these types of hemophilia have similar symptoms, but their treatment contains some differences, so it is important to diagnose the specific type of disease.

Signs of hemophilia

The main symptoms and signs of hemophilia include:

• constant persistent bleeding that begins an hour or two after a cut, tooth extraction or some other injury. There are also bleedings that are not associated with mechanical damage (spontaneous);
• extensive hematomas even after minor injuries;
• frequent bleeding from the nose and gums (brushing your teeth turns into a bloody spectacle);
• A serious consequence of hemophilia is intra-articular bleeding: blood entering the joint is accompanied by unbearable pain, swelling and impaired joint mobility. Any subsequent intra-articular bleeding can deform it and cause irreversible impairment of mobility;
• blood in “consumable” substances - urine and feces;

Hemorrhage in the brain and spinal cord, the likelihood of which in hemophilia is much higher than normal, can cause death.

Diagnosis of hemophilia

Like any hereditary disease, hemophilia requires a thorough study of the family tree for the presence of this disease in the family (especially in close relatives). In particular, attention is drawn to the presence of men on the maternal side with increased bleeding.

Since hemophilia is directly related to blood, a blood test is also extremely important in its diagnosis. The blood clotting time is determined from a blood sample taken from the patient. Slow blood clotting may indicate hemophilia. The number of blood clotting factors and their concentration is also determined. The specific type of hemophilia is determined using a thromboplastin generation test or through DNA diagnostics.

Treatment of hemophilia

During periods of exacerbation of bleeding, blood transfusions (hemotherapy) are prescribed, and depending on the type of hemophilia, treatment will vary. Thus, for hemophilia A, purified concentrate of blood clotting factor VIII is used (trade names - Cryoprecipitate, Agemfil A, Beriate, Hemoctin, Octavi, Fundy) or transfusion of fresh or antihemophilic plasma. For hemophilia B and C, plasma, native plasma concentrate and prothrombin complex are administered, including a combination of blood coagulation factors II, VII, IX and X (trade names - Konain 80, Prothromplex 600).

If the need for surgical intervention arises, the content of the missing blood clotting factor is first replenished, and only after that the operation is performed. This is especially true for intra-articular bleeding, when puncture of the joint with removal of spilled blood is carried out only after general hemotherapy. After surgery, physiotherapy (mud baths, water procedures, etc.) is used as part of auxiliary regenerative therapy.

In case of hemophilia, one should be especially scrupulous in avoiding injuries; surgical interventions should be performed only for vital indications, having carried out preliminary preparations beforehand.

Hemophilia: what does this word mean? A disease in which the first phase of blood clotting is disrupted is called hemophilia. This is a genetic disease that has its own characteristics and causes.

If bleeding occurs, the body reacts in a special way, preventing significant blood loss, which can be life-threatening. promote special substances that trigger the coagulation mechanism. These are proteins that promote the connection of platelets and clogging of damaged tissue areas. This stops the bleeding. There are 12 coagulation factors.

The etiology of hemophilia means that there is not enough protein in the blood, which is responsible for blood clotting and prevents the possibility of prolonged bleeding. Depending on which clotting factor is missing, the disease is divided into special types. Depending on this, the necessary treatment is prescribed and practical recommendations are given by the attending physician.

Hemophilia A is a deficiency of factor VIII. This type of disease is called classical hemophilia; doctors encounter this pathology in 85% of cases. Hemophilia B involves problems with factor IX. Until recently, another type was identified - hemophilia B, but its manifestations are quite specific, and this type of hemophilia is not currently considered among similar diseases. Despite the classification differences, the first two types of the disease manifest themselves in the form of increased bleeding and are noticed already in infancy.

The disease is also differentiated by severity. It depends on how deficient a particular clotting factor is in a given person.

Symptoms indicating a problem

Clinical symptoms characteristic of the disease are:

1. The appearance of large bruises after a blow or without cause.
2. Spontaneous occurrence of intra-articular and intramuscular bleeding. In this case, the elbow, ankle and knee joints are most often affected.
3. , arising suddenly, without reason.
4. High duration of bleeding after traumatic influences (for example, operations, large cuts, tooth extraction).
5. Sudden heavy nosebleeds.
6. Hematuria.

Characteristic aspects of the disease

Signs such as bleeding in muscles or joints may appear as swelling, stiffness or pain. Sometimes the patient cannot accurately determine the features of the condition that he characterizes as “strange.”

Similar signs are pronounced in infancy. Newborns experience prolonged bleeding from the umbilical cord. Upon examination, bruises are found on the head, perineum or buttock. These are warning signs of possible illness. Immediate examination is necessary to determine possible hemophilia, especially if cases of the disease are known among relatives. However, it is currently impossible to know for sure whether carriers of the disease will have a child with signs of this serious illness.

Before one year of age, bleeding appears in the child's mouth or nasal cavity; after 3 years, hemorrhages are observed in muscle tissue or joints. At early school age, gums or internal organs may bleed. As they get older, their manifestations are less noticeable. But this does not mean that the disease goes away. The person continues to be at risk for bleeding; he must be extremely careful and follow all doctor’s recommendations.

There is a common misconception that the patient can die from excessive blood loss in the event of any scratch. This is not true: although problems with coagulation and stopping bleeding exist, only large injuries, lacerations or surgical intervention (surgeries, tooth extraction) are dangerous. If surgical intervention is absolutely necessary, the patient is prepared for this using special methods.

The disease can provoke heavy blood loss not only immediately at the time of tissue injury, but even after a significant period of time. Repeated bleeding occurs even after a few days.

The most “expressive” signs of hemophilia are bleeding in the joints. Bruises in these areas or in the muscle tissue look like a tumor. Such formations do not disappear quickly; sometimes they persist for up to 60 days.

The manifestation of hematuria () may not cause significant discomfort, but in some cases it is accompanied by severe pain. This is due to the passage of blood clots through the urinary system.

Complications of hemophilia

Complications of hemophilia are that the disease is not only dangerous, but also diseases that subsequently develop. Extensive “bruises” can put pressure on tissues and nerve fibers, disrupt the sensitivity of the affected area, and create problems with movement.

Constant hemorrhages affect the joints and cause hemarthrosis, and then problems with the entire musculoskeletal system. The initial signs of this disease can be noticed already at early school age. The speed at which the problem manifests depends on the severity of the underlying disease. Mild hematuria is fraught with the occurrence of joint hemorrhages only after injury. A severe form of the disease causes spontaneous bleeding. With significant development of hemarthrosis, the patient may be at risk of disability.

Hematuria leads to hydronephrosis, pyelonephritis or capillary sclerosis.

Serious blood loss causes the formation. Despite the fact that the risk of hemorrhages in the cerebral region is quite small, the risk of stroke remains. People diagnosed with hemophilia need to protect themselves from even minor head injuries.

Causes of hemophilia

If we consider the causes of hemophilia, it is a hereditary disease. The gene that causes pathological changes in the body is located on the X chromosome. The hemophilia gene is recessive. And since it can only be found on the X chromosome, the disease affects only men. But women are carriers of the pathology and can give birth to sick children (boys) or carriers of hemophilia (girls). This phenomenon is called “sex-linked inheritance.” If a man has the disease and a woman does not, their daughters will become carriers of the affected gene. Boys in such a family are born healthy. If a mother has a similar gene mutation, then the probability of her transmitting the disease to her sons is 50%. Daughters in this case also inherit this problem as carriers.

There are cases of sporadic hemophilia - the birth of a sick child in a family that has not observed other cases of the disease. Hemophilia in women is extremely rare. Only one historical fact has been recorded - the presence of this pathology in Queen Victoria. But her acquisition of the disease was not hereditary. The disease was the result of damage to genes in the woman’s body.

About 30% of cases of pathology are gene mutations in the body of the patient himself. But it is absolutely impossible to become infected with hemophilia.

Diagnosis of hereditary disease

If the family has already encountered a similar problem, then family history becomes of great importance. This information allows us to predict the birth of a child with similar genetic characteristics.

To diagnose hemophilia, modern medicine uses laboratory tests. Basically, diagnosis involves:

1. Mixed - APTT.
2. TV (thrombin time) is determined.
3. The PTI (prothrombin index) is determined.
4. Calculated.
5. The number of coagulation factors is calculated.
6. The quantity is determined.
7. The INR (international normalized ratio) is determined.
8. APTT (activated partial thromboplastin time) is calculated.

Some of these indicators will be higher than the established norm (for example, clotting time or TV). Other data will show values ​​below normal (prothrombin index). The main information according to which the presence of a problem can be determined is the indicator of low concentration (or activity) of the clotting factor.

Treatment of hemophilia

When diagnosed with hemophilia, treatment as such is not carried out. This disease cannot be cured. However, this does not mean a “sentence” for a patient with hemophilia. The person’s condition must be monitored and timely treatment measures taken to relieve severe consequences. With the modern state of medicine, this can be done very effectively. By injection, the patient is given a solution of the coagulation element, the lack of which causes danger. Bleeding stops when the amount of the required substance reaches the norm. Sometimes they practice the injection of blood plasma (fresh or frozen). In some cases, blocking the vessel with bioglue or a special dressing is sufficient.

Medicines are obtained from donated blood. But now the necessary substances can be produced by methods developed in genetic engineering. This avoids the risk of contracting a viral infection (as is the case with donated blood products). With timely treatment, hemophilia patients can live long and fulfilling lives. However, the cost of medicines is very high. People with an identified disease need support from special programs that have been established and operate in many countries of the civilized world.

Based on the type of disease, doctors may provide the following symptomatic treatment:

1. For type A, transfusions of dry concentrates such as cryoprecipitate and antihemophilia plasma are performed.
2. For type B, a concentrate of the missing clotting factor is administered.
3. For type C, the introduction of dried donor plasma is often recommended.

Procedures are actively used that can significantly make the life of a person suffering from hemophilia:

1. Reducing pain in the affected joint (application of a cold compress, fixation with a plaster splint).
2. Physiotherapy to ensure restoration of the musculoskeletal system.
3. A diet high in vitamins A, B, C and D, as well as essential microelements.

Treatment of hemophilia is strictly incompatible with the use of any blood thinning medications. These include anti-inflammatory, painkillers and antipyretic drugs: Aspirin, Brufen, etc.