Hemophilia diagnosis and treatment. Why do only men get hemophilia if the disease is transmitted through the female line? Methods for preparing antihemophilic drugs

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

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, it is assigned necessary treatment and practical recommendations from the attending physician are given.

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 currently among the similar diseases not considered. 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 a child in the oral or nasal cavity; after 3 years, hemorrhages are observed in muscle tissue or joints. In the early school age gums may bleed or internal organs. 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 clotting and stopping bleeding exist, only large injuries are in danger, lacerations or surgical intervention (surgery, tooth extraction). 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. Bruising in these areas or in the muscle tissue looks 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 explained by the passage 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 course 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. Gene causing pathological changes in the body, 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 recorded historical fact- 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 promptly carried out. therapeutic measures, relieving 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 infection viral infection(as is the case with donated blood products). At timely treatment Hemophilia patients can live long and fulfilling lives. However, the cost of medicines is very high. People with diagnosed illness need support special programs, which are 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.

The date of World Hemophilia Day - April 17 - coincides with the birthday Founder of the World Federation of Hemophilia Frank Schneibel.

According to rough estimates, the number of hemophilia patients in the world is 400 thousand people, and about 15 thousand hemophilia patients live in the Russian Federation. But no one knows the exact number, since in Russia there is no national register of hemophilia patients.

Historical reference

30 years of life

Hemophilia is a disease associated with poor clotting blood. The cause of non-clotting is either a deficiency or complete absence of certain coagulation factors. More than a dozen special proteins, designated by Roman numerals from I to XIII, are involved in the blood clotting process. Deficiency of factor VIII is called hemophilia A, factor IX - B.

A deficiency or defect (depending on the type and subtype) of von Willebrand factor is called von Willebrand disease. There are also more rare types of hemophelia, in particular, factor VII deficiency - hypoproconvertinemia (formerly called hemophilia C).

Until recently, few sick children lived to adulthood. average duration life did not exceed 30 years. But today medicine can boast modern drugs, which can improve the quality of life of patients and increase its duration. At proper treatment patients with hemophilia can lead a full life: study, work, create families.

Diagnosis inherited

Hemophilia is an inherited disease. The hemophilia genes are located on the sex X chromosome, which is passed from grandfather to grandson through a healthy daughter who is a carrier of the defective gene. That is, men usually suffer from the disease, while women act as carriers of hemophilia and can give birth to sick sons or carrier daughters. According to WHO statistics, approximately one male infant in 5,000 is born with hemophilia A, regardless of nationality or race.

However, hemophilia can appear even if the child in the family did not have carriers of the disease genes.

The most famous carrier of hemophilia in history was Queen Victoria of England. There is a version that the mutation occurred precisely in the genotype, since there were no people suffering from hemophilia in the families of her parents. According to another version, the presence of the hemophilia gene in Queen Victoria can be explained by the fact that her father was not Edward Augustus, Duke of Kent, but another man with hemophilia. But there is no historical evidence in favor of this version.

Live. Why did doctors give Queen Victoria chloroform?

The Queen of England passed on this disease as an “inheritance” to the reigning families of Germany, Spain and Russia. One of Victoria’s sons suffered from hemophilia, as did a number of grandchildren and great-grandchildren, including the Russian Tsarevich Alexei Nikolaevich. That is why the disease received its informal names - “Victorian disease” and “Royal disease”.

Manifestations, diagnosis and treatment

The first symptoms appear depending on the severity of the disease. The more severe the hemophilia, the earlier signs of bleeding appear.

From the first days of life, the child develops hematomas on the head, and prolonged bleeding from the umbilical cord is possible. When a child takes his first steps, falls and bruises inevitably occur, and an obvious symptom is the inability to stop the bleeding using conventional methods.

At the age of 1-3 years, damage to the muscles and joints may begin, with painful swelling, limitation of movements of the arms and legs.

A characteristic sign of hemophilia is hemarthrosis - bleeding in the joints that occurs spontaneously and without visible reasons.

In addition, patients experience subcutaneous and intermuscular hematomas, nasal, renal, gastrointestinal bleeding, and severe bleeding after tooth extraction. Moreover, each such bleeding can become fatal.

An accurate diagnosis is made after measuring the level of the corresponding blood clotting factor. A blood test (coagulogram) is done in specialized laboratories of hematology centers.

The disease is currently incurable, but hemophilia can be successfully controlled with injections of the missing clotting factor, isolated from donor blood or obtained artificially.

Myths and facts

The patient can die from a small scratch. This is not so, the danger comes from major injuries and surgical operations, tooth extraction, spontaneous internal hemorrhages in muscles and joints.

Only men get hemophilia. This is not entirely true. Women also suffer from hemophilia, but extremely rarely. About 60 cases of hemophilia in girls have been described worldwide. According to one version, the rarity of this disease among women is due to the physiology of the female body: monthly blood loss due to poor blood clotting leads to early death.

Patients with hemophilia should not undergo surgery. That’s right, any surgical interventions are permitted only for health reasons and if it is possible to organize replacement therapy with blood clotting factor drugs. In addition, patients with hemophilia cannot engage in physical activity and sports, and it is also dangerous for them to administer drugs intramuscularly.

A woman with hemophilia genes will definitely give birth to a sick child. In fact, this is not entirely true, because carriers of the hemophilia gene cannot plan the birth of a patient or healthy child. The only exception can be the procedure in vitro fertilization(IVF), but subject to a number of conditions. Diagnose the presence of hemophilia in the fetus from the 8th week of pregnancy.

Surgical interventions, wounds), spontaneous hemorrhages in various organs and hematomas.

The peculiarity of hemophilia is that only boys suffer from the disease, while girls do not get sick, but are only carriers of the mutant gene. Currently, with proper therapy, hemophilia patients can live to a ripe old age, whereas without treatment, such people usually die within 10 to 15 years.

Essence and brief characteristics of the disease

Hemophilia is caused by a lack of special proteins in the blood called clotting factors. These proteins participate in a cascade of biochemical reactions that carry out blood clotting, the formation of a blood clot and, accordingly, stopping bleeding from a damaged area of ​​​​tissue. Naturally, a deficiency of coagulation factors leads to the fact that such a cascade of biochemical reactions proceeds slowly and incompletely, as a result of which the blood clots slowly, and any bleeding is quite prolonged.

Depending on which coagulation factor is insufficient in the blood, hemophilia is divided into two types - hemophilia A and hemophilia B. With hemophilia type A, a person’s blood has a deficiency of coagulation factor VIII, which is also called antihemophilic globulin (AGG). In hemophilia type B, there is a deficiency of clotting factor IX, also called Christmas factor.

Previously, hemophilia type C (Rosenthal disease) was also identified, which is caused by a deficiency of coagulation factor XI, however, due to the fact that it differs significantly from A and B in clinical manifestations and causes, this disease is classified as a separate nosology and is currently not considered a variant hemophilia.

Currently, up to 85% of all cases of hemophilia are type A, also called “classical hemophilia.” And hemophilia type B accounts for no more than 15% of all cases of the disease. The overall incidence of hemophilia A ranges from 5 to 10 cases per 100,000 births, and hemophilia B is 0.5 to 1 case per 100,000 births.

In children older than six months and adults, hemophilia is manifested by bruising that appears even with minor injuries (bruises), as well as bleeding from the gums and nose or when teething, biting the tongue and cheeks. Bleeding usually lasts for at least 15 to 20 minutes, even with light biting of the tongue, after which it stops. However, a few days after the injury, bleeding resumes. It is the resumption of bleeding some time after the injury and, it would seem, the bleeding has already stopped that is characteristic feature hemophilia.

The bruises and bruises that form in patients with hemophilia are extensive, do not resolve for a long time and constantly reappear. The bruise may take up to 2 months to resolve. Moreover, bruises in patients with hemophilia bloom, that is, their color changes sequentially - first they are blue, then purple, then brown and at the last stage of resorption - golden.

For patients with hemophilia, hemorrhages in the eye or internal organs are very dangerous, since they can lead to blindness in the first case, and to death in the second.

The most typical hemorrhages in hemophilia are articular. That is, blood flows into the joint cavity, as a result of which hemarthrosis develops. The large joints most commonly affected are the knees, elbows, shoulders, hips, ankles and wrists. When hemorrhaging into a joint, swelling and pain appear in the affected organ, body temperature rises and protective muscle contraction occurs. With primary hemorrhages, the blood gradually resolves, and with repeated hemorrhages, clots remain in the joint cavity, which help maintain chronic inflammation and the formation of ankylosis (joint immobility).

For patients with hemophilia, the use of drugs that impair blood clotting, such as Aspirin, Indomethacin, Analgin, Sinkumar, Warfarin, etc., is strictly contraindicated.

Hemophilia is a hereditary disease, meaning it is passed on from parents to children. The fact is that a deficiency of blood coagulation factors, which is the basis for the development of the disease, occurs in a person not under the influence of factors environment, but due to mutations in genes. This mutation leads to the fact that clotting factors are not produced in the required quantities, and the person develops hemophilia. A special feature of hemophilia is the fact that women are only carriers of the defective gene, but do not suffer from bleeding themselves, while boys, on the contrary, do get sick. This feature is due to the sex-linked inheritance of a defective gene that causes hemophilia.

Causes of hemophilia

Thus, the primary, true cause of hemophilia is a mutation in the genes of clotting factors. And the direct factor causing the tendency to bleeding is a deficiency of coagulation factors in the blood, which occurs due to mutations in genes.

Hemophilia gene (recessive, sex-linked)

The location of the hemophilia gene on the sex X chromosome means that its inheritance is sex-linked. That is, the gene is transmitted according to certain patterns that differ from the inheritance of other genetic material not located in the sex chromosomes. Let's take a closer look at the inheritance of the hemophilia gene.

Any normal person necessarily has two sex chromosomes, one of which he gets from his father, and the other from his mother. The fact is that the egg and sperm each have only one sex chromosome, but when fertilization occurs and their genetic material is combined, a fertilized egg is formed, already equipped with two sex chromosomes. From this fertilized egg the child develops.

The combination of sex chromosomes, formed as a result of the fusion of the genetic sets of the father and mother, determines the sex of the unborn child already at the stage of fertilization of the egg by the sperm. It goes like this.

As is known, humans have only two types of sex chromosomes – X and Y. Any man carries a set of X + Y, and a woman – X + X. Accordingly, in female body One X chromosome always enters the egg. And in the male body, either the X chromosome or the Y chromosome enters the genetic set of the sperm with equal frequency. Further, if the egg is fertilized by a sperm with the X chromosome, then the fertilized egg will carry the set X + X (one X from the father, and the second from mother) and, therefore, a girl will be born. If the egg is fertilized by a sperm with a Y chromosome, then the fertilized egg will carry the set X + Y (X from the mother, and Y from the father) and, therefore, a boy will be born.

The hemophilia gene is linked to the X chromosome, therefore, its inheritance can only occur if it is on the chromosome that ends up in the egg or sperm.

In addition, the hemophilia gene is recessive, meaning that it can only work if there is a second identical recessive allele of the gene on the paired chromosome. To clearly understand the meaning of recessiveness, you need to know the concept of dominant and recessive genes.

So, all genes are divided into dominant and recessive. Moreover, each gene responsible for a particular feature (for example, eye color, hair thickness, skin structure, etc.) can be either dominant or recessive. The dominant gene always suppresses the recessive one and manifests itself externally. But recessive genes appear externally only if they are present on both chromosomes - those received from the father and from the mother. And since a person has two variants of each gene, one part of which is received from the father, and the second from the mother, the final manifestation of the external characteristic depends on whether each half is dominant or recessive.

For example, the gene for brown eyes is dominant, and the gene for blue eyes is recessive. This means that if a child receives a gene for brown eyes from one parent, and blue from the other, then he will have brown eyes. This will happen because the dominant brown-eyed gene will suppress the recessive blue-eyed gene. So that the child has Blue eyes, he must receive two recessive blue-eyed genes from both parents. That is, if there is a combination of a recessive + dominant gene, then the dominant one always appears outwardly, and the recessive one is suppressed. For a recessive to appear, it must be in “two copies” - both from the father and from the mother.

Returning to hemophilia, it is necessary to remember that its gene is recessive and linked to the X chromosome. This means that for hemophilia to manifest, it is necessary to have two X chromosomes with recessive genes hemophilia. However, only women have two X chromosomes, and only men who carry the X + Y set suffer from hemophilia. This paradox is easily explained. The fact is that a man has only one X chromosome, on which there may be a recessive hemophilia gene, and on the second Y chromosome there is none at all. Therefore, a situation arises when one recessive gene outwardly manifests itself as hemophilia, since there is no one to suppress it due to the absence of a second dominant paired gene.

A woman can develop hemophilia only if she receives two X chromosomes with recessive genes for the disease. However, in reality this is impossible, since if a female fetus carries two X chromosomes with hemophilia genes, then at the 4th week of pregnancy, when it begins to produce blood, a miscarriage occurs due to its non-viability. That is, only a female fetus in which only one X chromosome carries the hemophilia gene can develop normally and survive. And in this case, if there is only one X chromosome with the hemophilia gene, the woman will not get sick, since the second, paired dominant gene of the other X chromosome will suppress the recessive one.

Thus, it is obvious that women are carriers of the hemophilia gene and can pass it on to their offspring. If the offspring of a woman is male, then it will be high probability will suffer from hemophilia.

Probability of hemophilia

If a man with hemophilia and a healthy woman marry, then the boys born to them will be healthy, and girls with a 50/50 probability will become carriers of the hemophilia gene, which they can subsequently pass on to their children (Figure 1).

Marriage of a man with hemophilia and a woman who carries the hemophilia gene unfavorable from the point of view of the birth of healthy offspring. The fact is that in this couple there are the following probabilities of having children with gene carriage or hemophilia:

• Birth of a healthy boy – 25%;
• Birth of a healthy girl who is not a carrier of the hemophilia gene – 0%;
• Birth of a healthy girl carrier of the hemophilia gene – 25%;
• Birth of a boy with hemophilia – 25%;
• Miscarriages (girls with two hemophilia genes) – 25%.

Marriage of a woman who carries the hemophilia gene and a healthy man will lead to the birth of sick boys with a 50% probability. Girls born from this union can also be carriers of the hemophilia gene with a 50% probability.

Picture 1- children born from the marriage of a man with hemophilia, and healthy woman.

Hemophilia in children

If hemophilia is suspected, the child should be examined and the diagnosis confirmed or refuted. If hemophilia is confirmed, then you need to be observed by a hematologist and undergo regular replacement treatment. Parents should also closely monitor the child and try to limit various injuries.

A child with hemophilia should not be given intramuscular injections, as they provoke bleeding. For such children, medications are administered only intravenously or given in tablet form. Considering the impossibility of intramuscular injections, teachers, educators and nurses should be warned about the illness so that they, along with everyone else, do not accidentally vaccinate the child, etc. In addition, a child with hemophilia should be protected from surgical operations, and if they are for any reason - reasons are vital, then careful preparation should be carried out in a hospital setting.

Hemophilia in women

So, a woman can have hemophilia only if her father, who has hemophilia, and her mother, a carrier of the disease gene, marry. The likelihood of having a daughter with hemophilia from such a union is extremely low, but still exists. Therefore, if the fetus survives, a girl with hemophilia will be born.

The second option for the appearance of hemophilia in a woman is a gene mutation that occurred after her birth, which resulted in a deficiency of coagulation factors in the blood. This is exactly the mutation that occurred in Queen Victoria, who developed hemophilia not inherited from her parents, but de novo.

Women with hemophilia have the same symptoms as men, so the course of the disease is exactly the same between genders.

Hemophilia in men

Types (types, forms) of the disease

The clinical manifestations of both types of hemophilia (A and B) are the same, so it is impossible to distinguish them from each other based on their symptoms. It is possible to accurately determine the type of hemophilia that a particular person suffers from only through laboratory tests.

Despite the same clinical manifestations, establishing the type of hemophilia that a particular person suffers from is necessary because the treatment for hemophilia A and B is different. That is, knowledge of the type of hemophilia is necessary for correct and adequate treatment, which will provide a person with a normal quality and life expectancy.

Signs (symptoms) of hemophilia

Hemophilia, as a rule, manifests itself from the first days of a newborn child’s life. The first signs of the disease are hematomas on the head, hemorrhages under the skin, bleeding from injection sites, as well as from a bandaged umbilical wound, which occur sporadically within a few days after ligation of the umbilical cord. During the first year of life, hemophilia in children is manifested by bleeding during teething, accidental bite of the cheeks or tongue. From the age of 1 year, when a child begins to walk, he develops the same symptoms of hemophilia as adults. These symptoms are combined into a special group called hemorrhagic syndrome.

So, hemorrhagic syndrome, which is the main manifestation of hemophilia, includes the following symptoms:

• Hematomas;
• Hemarthrosis;
• Delayed bleeding.

Let us consider in detail the manifestations of hemorrhagic syndrome.

Hematomas (bruises) represent extensive hemorrhages into various tissues - under the skin, into the intermuscular space, under the periosteum, behind the peritoneum, into the structures of the eye, etc. Hematomas form quickly, and over time they tend to spread over an even larger area. Their formation is caused by the outflow of liquid, non-coagulating blood from damaged vessels. Due to the fact that the leaked blood remains liquid and uncoagulated for a long time, hematomas take a very long time to resolve. If the hematoma is large, it can compress nerves and large blood vessels, causing paralysis, severe pain, or even tissue necrosis.

The most common types of hematomas are skin and intermuscular hematomas, which are also the safest. Apart from pain and deterioration in the aesthetic appearance of the body, such hematomas do not cause any serious consequences. In the area of ​​the bruise on the skin or muscles, a person feels numbness, tingling, heat and pain, as well as limited movement. In addition to these manifestations, a hematoma can cause general symptoms– increased body temperature, weakness, malaise and sleep disturbance.

Hematomas that form in internal organs are dangerous. Retroperitoneal hematomas cause symptoms similar to acute appendicitis (acute abdominal pain, fever, etc.), and they are very dangerous because they can lead to fatal outcome. Hematomas that form in the mesentery of the intestine can cause intestinal obstruction. Hematomas in the eye can lead to blindness.

Delayed bleeding. In hemophilia, internal and external bleeding develops. The most common bleeding is from the gums, nose and oral mucosa. Internal bleeding rarely develops and only due to injury.

All bleeding in hemophilia is usually divided into ordinary And life threatening. Common ones include bleeding in muscles, joints, skin and subcutaneous fat. Life-threatening bleeding includes bleeding into internal organs that are critically important for human life, for example, the head and spinal cord, heart, etc. For example, bleeding in the brain can trigger a stroke followed by death, etc.

Bleeding in hemophilia does not correspond to the severity of the injury, since the blood flows for a long time. A characteristic feature of bleeding is its delay. That is, after bleeding stops, it can resume several times over the next few days. As a rule, the first delayed bleeding develops 4 to 6 hours after injury. This occurs due to the fact that the formed thrombus turns out to be insolvent, and the blood flow tears it away from the vessel wall. As a result, a hole again forms in the vessel, through which blood flows out for some time. The bleeding finally stops when the wound on the wall of the vessel contracts and the blood clot is strong enough to close it reliably, without breaking under the influence of blood flow.

One should not think that a patient with hemophilia loses a lot of blood during minor cuts and abrasions. In such cases, bleeding stops as quickly as in healthy people. But during extensive surgical operations, wounds, and tooth extraction, bleeding can be prolonged and life-threatening. That is why injuries and surgical operations, and not banal scratches, are dangerous for hemophilia sufferers.

Hemarthrosis- These are hemorrhages in the joints, which are the most typical and frequent manifestation of hemophilia. With hemarthrosis, blood flows into the joint cavity from the tissues of the joint capsule. Moreover, in the absence of measures aimed at stopping bleeding and treating hemophilia, blood flows out of the vessels until the entire joint cavity is filled.

Hemarthrosis occurs only in children over 3 years of age and adults. Children under 3 years of age do not have hemarthrosis due to hemophilia, since they move little and, thus, do not load the joints.

Hemorrhages most often occur in large joints that experience heavy stress, such as knees, elbows and ankles. Somewhat less commonly, hemarthrosis affects the shoulder and hip joints, as well as the joints of the feet and hands. The remaining joints are almost never affected in hemophilia. Bleeding may occur continuously in the same joint, which in this case is called the target joint. However, hemorrhages can simultaneously occur in several joints. Depending on the severity of the disease and the age of the person, hemarthrosis can damage from 8 to 12 joints.

Bleeding in the joints in hemophilia occurs for no apparent reason, that is, in the absence of damage or injury that could disrupt the integrity of the blood vessels. With acute hemorrhage, the volume of the joint quickly increases, the skin over it becomes taut, tense and hot, and with any attempt to move it is felt sharp pain. As a result frequent hemorrhages a contracture forms in the joint cavity (a band that prevents the joint from moving normally). Due to contracture, movement in the joint is severely limited, and the joint itself takes on an irregular shape.

Due to constant hemorrhages in the joint, a sluggish inflammatory process begins, against which arthritis slowly develops. The bone that forms the joint, under the influence of proteolytic enzymes that absorb spilled blood, also undergoes decay. As a result, osteoporosis begins to develop, cysts filled with fluid form in the bones, and muscles atrophy. This process leads to disability of a person after a certain period of time.

Replacement therapy for hemophilia allows you to slow down the progression of arthritis and, thereby, delay the onset of persistent deformation and loss of functional activity of the joint. If replacement therapy for hemophilia is not carried out, the joint becomes deformed and ceases to function normally after several hemorrhages.

Severity of hemophilia determined by the amount of coagulation factor in the blood. Thus, normally the activity of coagulation factors is 30%, and in hemophilia it is no more than 5%. Therefore, depending on the activity of coagulation factors, hemophilia is divided into the following degrees of severity:

• Extremely heavy– coagulation factor activity 0 – 1%;
• Heavy– coagulation factor activity 1 – 2%;
• Moderate– coagulation factor activity 3 – 5%;
• Lightweight– coagulation factor activity 6 – 15%.

Diagnosis of hemophilia

• Plasma recalcification time (in hemophilia it is longer than 200 seconds);
• APTT (for hemophilia is more than 50 seconds);
• Mixed APTT (with hemophilia within normal limits);
• PTI (for hemophilia it is less than 80%);
• INR (for hemophilia, more than normal, that is, more than 1.2);
• Autocoagulation test (more than 2 seconds);
• Reduced concentration of coagulation factors VIII or IX in the blood;
• Determination of antigen VIII and IX coagulation factors (in hemophilia, the level of these antigens is normal, which makes it possible to distinguish it from von Willebrand disease);
• Thromboplastin generation test (allows you to distinguish between hemophilia A and B). To perform this test, two reagents are added to the blood being tested - blood plasma from a healthy person, left for 1-2 days, as well as plasma precipitated with BaSO 4, after which the aPTT is determined in both samples. If the aPTT becomes normal in a test tube into which plasma has been added and left for 1-2 days, it means the person has hemophilia B. If the aPTT becomes normal in a test tube into which plasma precipitated with BaSO4 has been added, then the person has hemophilia A;
• DNA restriction fragment length polymorphism (the most reliable and accurate test, which makes it possible to identify mutations in genes that cause hemophilia and determine the type of disease - A or B).

In addition, there is a range of tests that make it possible to diagnose hemophilia during the period of intrauterine development of the fetus. It is recommended to resort to such analyzes married couples who are at risk of having a child with hemophilia (for example, the woman’s father or brothers have hemophilia, etc.). So, To detect hemophilia in a fetus, the following tests are performed:

• Polymorphism of the lengths of restriction fragments of fetal DNA (material for the study is obtained during amniocentesis after the 15th week of pregnancy);
• Level of activity of coagulation factors (cord blood is taken for research at the 20th week of pregnancy).

Hemophilia - treatment

General principles of therapy

For replacement therapy of hemophilia A use blood cryoprecipitate, purified or recombinant factor VIII, as well as fresh citrated donor blood that has not been stored longer than a day. These replacement therapy agents are administered intravenously 2 times a day. The optimal means are factor VIII drugs, which should be used primarily for the treatment of hemophilia A. And only in the absence of factor VIII drugs, blood cryoprecipitate or citrated blood can be used as a means of replacement therapy for hemophilia.

For replacement therapy of hemophilia B use purified factor IX concentrates (for example, Conine-80), prothrombin complex preparations, complex drug PPSB and preserved blood or plasma of any shelf life. These replacement therapy agents are administered intravenously once a day. By the best means Factor IX concentrates are used to treat hemophilia B. Prothrombin complex preparations, PPSB and banked blood are recommended only if factor IX concentrates are not available.

In developed countries of Europe and the USA, drugs made from blood (cryoprecipitate, citrate donor blood, canned or frozen plasma), since, despite the selection and testing of donors, the possibility of transmitting severe infections such as AIDS, hepatitis, etc. cannot be ruled out. However, in countries former USSR Most patients with hemophilia are forced to use drugs obtained from donor blood. Therefore, if a person suffering from hemophilia has the opportunity to purchase factor VIII or IX drugs, then they should do this and use them rather than blood components, since this is much safer and more effective.

Hemophilia patients undergo replacement therapy continuously throughout their lives. In this case, replacement therapy drugs can be administered prophylactically or on demand. Prophylactically, drugs are administered when the level of clotting factor activity reaches 5%. Thanks to the prophylactic administration of drugs, the risk of bleeding, hemarthrosis and hematomas is minimized. On demand, drugs are administered when any episode of bleeding has already occurred - hemarthrosis, hematoma, etc.

In addition to replacement therapy, symptomatic drugs are used, which are necessary to relieve certain emerging disorders in the functioning of various organs and systems. For example, to stop bleeding, patients with hemophilia need to take orally aminocaproic acid (Acicapron, Afibrin, Amicar, Karpacid, Carpamol, Epsicapron), tranexamic acid (Cyclocapron, Tranexam, Troxaminate, Exacil), as well as Ambien or Desmopressin ( synthetic analogue vasopressin) or apply a hemostatic sponge, fibrin film, gelatin, thrombin or fresh human milk topically to the area of ​​hemorrhage.

In case of hemorrhage in the joints, the patient must be put to bed and the limb immobilized in a physiological position for 2–3 days. Apply cold to the affected joint. If a lot of blood has spilled into the joint cavity, it should be quickly removed by aspiration (suction). After aspiration, a solution of Hydrocortisone is injected into the joint to stop the inflammatory process. After 2 - 3 days after hemorrhage in the joint, it is necessary to eliminate immobility, do a light massage of the affected limb and make various careful movements with it.

If, as a result of numerous hemorrhages in the joint, its function is lost, then surgical treatment is necessary.

Drugs for the treatment of hemophilia

• Purified or recombinant factor VIII (for hemophilia A) – Vilet, Immunat, Cogenate, Coate-DVI, Octanate, Recombinate, Fundy, Emoclot;
• Purified factor IX concentrates (for hemophilia B) – Aimafix, Immunin, Conine-80, Octaneine;
• Prothrombin complex preparations (for hemophilia B) – Autoplex, Feiba.

Hemophilia: history of observation of the disease, transmission of the hemophilia gene, types, diagnostic methods, treatment with blood clotting factors, prevention (opinion of a hematologist) - video

Hemophilia: description, symptoms, diagnosis, treatment (replacement therapy) - video

Hemophilia: statistics, nature of the disease, symptoms, treatment, rehabilitation measures for hemarthrosis (bleeding in the joint) - video

Specialist in research of biomedical problems. Bleeding gums - causes, treatment and prevention

Inheritance of hemophilia is a phenomenon that modern medicine cannot yet combat.

Hemophilia is a genetic, inherited disorder that is caused by only one gene on the X chromosome. It is characterized by a slowdown in blood clotting.

This pathology can be registered almost exclusively in representatives of the male half of humanity. Hemophilic disease in men occurs as a result of inheriting the disease from the mother. It follows from this that reproduction of the disease occurs only in the recessive type, overwhelmed by the X-chromosome type, hemophilia in a child healthy parents almost impossible. Representatives of the female sex this disease can be almost exclusively carriers or transmitters. They usually do not inherit symptoms. Nevertheless, extremely rare and phenomenal episodes are known when girls and mothers suffered from hemophilia. This can happen if the father has a disease, and the mother is a carrier of a chromosome with the hemophilic gene - the daughter of a similar father and mother may be born with a similar genetic disease.

Signs and root causes of hemophilia

One of the incorrect interpretations of the question is the statement that a person suffering from this genetic disorder can die from loss of blood due to any abrasion or other tissue damage. In fact, one of the main properties of the disease is considered to be high, profuse bleeding, but it appears quite often, including in the absence of injuries.

The main symptom of the disease is excessive bleeding of various locations, which occurs from time to time, including due to blood loss during traumatic injuries and performing surgical procedures.

As a result of a simple, not at all serious injury, a large tumor appears.

Hemophilia is a hereditary disease and affects mainly representatives of the stronger sex, since the immunogen that causes hemophilia is located on the X chromosome, so girls are carriers and have every chance of transmitting the disease to their own sons with a high percentage of success. Bleeding is inherited in accordance with the recessive type, combined with the X chromosome, and since the stronger sex has only one X chromosome, if it is transmitted, the male child will inherit the disease. This is a dominant sign.

Doctors have every chance to recognize this genetic disorder even before the baby is born. After his birth, the obvious symptom will be hematomas and excessive blood loss from minor injuries. The hereditary origin of this disease is beyond doubt. Therefore, if such signs are found, it is necessary to carefully interview all relatives.

Hemophilia is inherited. At the present time, medical science is not able to eliminate the factor of origin of the disease. For now, this is not feasible, because the disease turns out to be predetermined by the genetic structure itself. People with similar serious illness must learn to be very careful about their own well-being and carefully follow precautionary measures. Diseases are often inherited from relatives.

Forms and types of hemophilia

Hemophilia comes in three forms depending on the degree and consequences for the body:

1. Easy. Bleeding occurs only as a result of medical intervention associated with surgical manipulation, or as a result of acquired injuries.
2. Moderate. Medical signs, characteristic of hemophilia, have every chance of arising in early age. This type of form is characterized by the formation of bleeding due to injuries and the occurrence of wide hematomas.
3. Heavy. Symptoms of the disease occur in the initial months of the baby’s life during the period of teeth growth, during the baby’s intense movement when crawling and taking the first steps.

Frequently occurring bleeding from the respiratory tract at the baby's. The formation of large hematomas due to falls and minor scratches is also considered a sign that serves as a basis for alarm and consultation with a specialist. Such hematomas, as a rule, increase in volume, swell, and when touching such a bruise, the baby experiences painful sensations. Hematomas disappear after a fairly long time, which averages up to eight weeks.

Types and forms of hemophilia

In addition to changes in severity, three subtypes of the disease are distinguished:

1. Hemophilia type “A” is determined by a gene defect in which the patient’s blood does not have the necessary polymer - a special substance that prevents the development of hemophilia, factor 8. This is classic hemophilia, and it occurs in 79% of all patients.
2. Hemophilia type “B” is caused by low activity of the 9th blood clotting factor, and a disorder in the development of re-coagulation plug occurs.
3. Hemophilia type “C” is caused by a defect in blood clotting factor 11. Type “C” is the most rare.

Diagnosis of hemophilia consists of genealogical history and information laboratory research. When conducting medical tests, the blood clotting period is determined, a sample of plasma is added, which is located outside the blood flow, the total number of factors and the degree of their deficiency are detected. Based on these data, the doctor judges the changes in the patient’s body associated with the disease.

Despite the fact that this disease is incurable, treating hemophilia and monitoring the patient’s well-being seems to be a completely feasible task. Patients receive injections of the missing factor, which is responsible for blood clotting. As a result, depending on which factor is deficient in the patient’s blood, the doctor treats hemophilia:

• when you see “A,” the eighth factor is injected into the blood;
• at the sight of “B,” the ninth factor is injected into the blood.

All clotting factors are prepared from blood taken from donors or from the blood of animals raised deliberately for this purpose.

With proper therapy and a careful attitude of the patient towards his own body, the life expectancy of a patient suffering from hemophilia will not differ in duration from the life of a person without this type of pathology.

Hemophilia in the female half of humanity and royalty

- an event is very rare, and as a result, doctors have little information to be able to fully qualify the clinical picture of the course of the disease in females.

The son of Nicholas II, heir to the royal crown, Alexei Romanov, who was killed by the Bolsheviks along with the family of the abdicated emperor in 1918, also suffered from this disease. In total, there are more than 400 thousand people in society suffering from this hereditary disease. This means that one in twenty thousand people suffers from hemophilia.

Medicine has created substances that can support the life activity of a person with hemophilia at a high-quality level.

And a patient with hemophilia is able to study at school and university, have offspring, work - be good dick communities. This challenging genetic disorder is recognized as the most costly disease on the planet. The high cost of treatment is due to the high price of medications that are produced from blood plasma taken from donors.

One of the significant difficulties of hemophilia is the large shortage of free necessary medical substances for patients, and this can cause early disability, usually in young people or adolescents. There is, in addition, a specific risk for patients receiving substances for treatment, due to the fact that the drug is made from the blood of donors and may be contaminated with hepatitis or AIDS.

Due to the above facts, the problem of hemophilia is now extremely acute for humanity. And in this regard, artificial preparations of the eighth and ninth coagulation factors were previously invented and put into production, which do not pose a threat of infections transmitted through the blood. However, their price is also quite high.

Hemophilia is a disease characterized by incoagulability of blood (this is how the word is translated from Greek). The disease is inherited. Bleeding and hemorrhage in this disease are prolonged, sometimes they occur spontaneously, without any apparent reason.

Fatal "legacy"

Any mention of hemophilia is primarily associated with the image of Tsarevich Alexei, the latter’s son Russian Emperor Nicholas II. Alexei had hemophilia, having received it from his mother, Empress Alexandra Feodorovna, who inherited the disease from her mother, Princess Alice, who, in turn, received it from Queen Victoria. Queen Victoria was a carrier of hemophilia, but of her nine children, only one son, Prince Leopold, had hemophilia and died when he was thirty-one, and her daughters, Princesses Alice and Beatrice, were carriers of the disease.

Of Princess Beatrice's four sons, only two had hemophilia, and her daughter, Victoria Eugenie, wife of the King of Spain, passed the disease on to two of her three sons. Princess Alice's son, Frederick, one of seven children who inherited hemophilia, died at the age of three. Her sister Irene's two sons were also hemophiliacs, but one of them managed to live safely to the age of 56.

Monarch parents tried as best they could to protect their children from any injuries. For example, the Spanish royal family dressed their two boys in cotton-lined suits; even the trees in the park where children usually played were wrapped in felt. Nicholas II and his family were also forced to take precautions, surrounding themselves with a narrow circle of people initiated into the secret of the disease, and isolating themselves from the outside world with a high iron grille that surrounded the palace park in Tsarskoe Selo. However, this could not protect the prince from bruises and abrasions, and the parents simply fell into despair, realizing that they were constantly living on the brink of disaster.

Many years ago.

The hereditary nature of the disease, transmitted through the maternal line, was indirectly indicated in the Talmud, a set of religious treatises of Judaism, where the following was literally written: “If one mother has two children who die from circumcision, then her third son is free from this circumcision - it doesn’t matter whether he comes from the same father or from another.” And this is not surprising, since the religious rite of circumcision, so important for adherents of Orthodox Judaism, is associated with minor bleeding. Consequently, the Talmud recommended that children who might be suspected of having hereditary disorder blood clotting. Until the end of the 19th century, the cause of this strange disease remained unclear. Doctors tried to explain it either by the abnormal development of the walls of blood vessels, which allegedly became too thin, or by hypertension, or by defects in the structure of red blood cells, or by the influence of the pituitary gland.

First pointed out the real reason disease in 1861, Professor Schmidt of the University of Dorpat, creating the enzymatic theory of familial bleeding. Later, his assumptions were confirmed: it turned out that the blood plasma of patients lacks some proteins that healthy people have.

Why and how does blood clot?

It is known that blood clotting is a protective reaction of the body. Blood released from the vessels should normally clot within 3-4 minutes. In this case, the blood changes from a liquid state to a jelly-like state. A clot forms, clogging the damaged vessel and stopping the bleeding. In patients with hemophilia, this mechanism of thrombus formation is impaired. The main cells responsible for blood clotting are platelets. When breaking blood vessel the cells with which it is lined from the inside are damaged. Under the lining lie long fibers basic protein connective tissue- collagen, to which platelets are able to adhere. Strong attachment of platelets to the wound surface leads to several important consequences. Firstly, a peculiar ring of microtubules is compressed inside the attached platelet, as a result of which the shape of the cell changes and numerous outgrowths appear on its surface, which helps to secure the platelet in the wound. Secondly, proteins appear on its surface, which are needed for the attachment of new platelets. Figuratively speaking, platelets that have penetrated the wound give a signal: “Here, to us! Needed here emergency help! From platelets rushing to help, they begin to be released biologically active substance- hormone serotonin. Under its influence, due to the contraction of smooth muscles, a vascular reaction begins - a local contraction of the lumens of blood vessels (spasm). Finally, platelets adhered to the wound release a substance that stimulates the division of smooth muscle cells. It’s also clear - the edges of the tear must be tightened with the help of muscles.

If a capillary turns out to be damaged, often a pile of platelets “piled” on the damaged site is quite enough to close the rupture site. If a larger vessel is damaged, the mechanism of fibrin plug formation is activated. It happens like this. Platelets attached to the wound release a special substance - a contact factor, which triggers a cascade of interactions between various proteins involved in the formation of a blood clot.

The main protein necessary for the formation of a blood clot is fibrinogen. Fibrin monomers resemble Lego blocks, from which you can easily build a long beam. Fibrinogen is a soluble blood plasma protein belonging to the group of globulins, one of the blood clotting factors. Under the action of the enzyme thrombin, it can be converted into fibrin.

The resulting polymer fibrin threads are stabilized by a special protein fibrinase. Thus, a real patch of densely intertwined fibrin threads appears in the wound, which neutralize thrombin. If this did not happen, thrombin could clot all the blood in the body.

It is clear that the fibrin plug cannot exist indefinitely. Pretty soon, endothelial cells (a single layer of flat cells lining inner surface circulatory and lymphatic vessels) and smooth muscles close the resulting gap in the wall of the vessel, and then the clot begins to interfere with the restored blood flow. Therefore, it must be removed, and this is done by another participant in the process - the enzyme fibrinolysin. Under its influence, the fibrin thrombus begins to disintegrate and soon disappears completely.

Who has hemophilia?

Hemophilia is passed from parents to children. But she has one interesting feature: only men suffer from hemophilia, and only women pass it on by inheritance. For example, a sick father passes hemophilia to his daughter, who will not have outward signs of the disease, but she will pass it on to her son, in whom hemophilia will manifest itself in full. However, those who think: this misfortune never happened in the family - and never will - are mistaken. Alas, this is not always the case. Trouble can come to any family. It has been proven that some patients received hemophilia not by inheritance, but as a result of the so-called sporadic gene mutation - for example, when foreign genetic information of a viral nature is introduced into the hereditary material of the body. Officially, 6.5 thousand patients with hemophilia are registered in Russia, but in fact, according to doctors, there may be 1.5-2 times more of them.

Severe hemophilia can usually manifest itself in the first year of life, with extensive bruising and unusually long bleeding. Lightweight and medium shape often first appear during surgical operations, even such as tooth extraction, in the form of prolonged bleeding.

Even a bruise, which in a healthy person would manifest itself as a bruise at worst, can have serious consequences in a patient with hemophilia. Entire “lakes” of blood can form under the skin, inside the skin, between the muscles. And if the knee is bruised, blood can flow into the joint cavity, which leads to limitation and even complete loss mobility, deformation, pain, so a person with hemophilia must be especially careful in everyday life.

Diagnostics

Early identification of a hemophilia carrier is based, first of all, on analysis of the family genealogical tree, measurement of the ratio of coagulant activity of blood factors VIII and IX, von Willebrand factor, as well as DNA analysis. DNA diagnosis is the most accurate, but not always informative. Prenatal diagnosis is possible by performing a chorionic villus biopsy at 9-11 weeks of pregnancy or puncture amniotic sac at the 12-15th week of fetal development, as well as DNA extraction from fetal cells for its appropriate analysis. Diagnosis of hemophilia A immediately after birth is based on the failure to detect normal factor VIII coagulant activity in the suspected newborn from whom blood is taken from a vein. Diagnosing hemophilia B, or factor IX deficiency, is more difficult because any newborn has low activity levels this factor. Low level factor IX can be detected in a newborn up to 6 months, even if the child does not have hemophilia. Puncture of the arteries, jugular, femoral and ulnar veins, as well as circumcision, are contraindicated until the patient has an appropriate factor level.

To clarify the diagnosis of hemophilia, laboratory diagnostics. During the examination, a series of blood tests are performed, the results of which determine the state of the coagulation system.

Manifestations of the disease

Most often, the first manifestations of bleeding in patients with hemophilia develop at the time when the child begins to walk and is exposed to household injuries. For some, the first signs of hemophilia appear already in the newborn period, for example in the form of bruises on the body (subcutaneous hematomas). During breastfeeding Life-threatening bleeding usually does not occur. This can be explained by the fact that human milk contains substances that for the time being prevent the disease from manifesting itself. In general, children with hemophilia are characterized by fragility, pale skin and poorly developed subcutaneous fat layer.

In newborns with hemophilia, extensive cephalohematomas (head hematomas), subcutaneous and intradermal hemorrhages in the buttocks and perineum, late bleeding from a tied umbilical cord in the first 24 hours after birth, and a little later (after 5-7 months) can also easily form. bleeding during teething.

In sick children 1.5-2 years old, even minor injuries are accompanied by bruises on the forehead, limbs, buttocks, and teething, biting the tongue and mucous membrane of the cheeks, injections are accompanied by prolonged, sometimes multi-day (up to 2-3 weeks) bleeding. Hemorrhages in the joints are often observed. Subcutaneous, intermuscular hematomas are extensive, tend to spread, resemble tumors in appearance, and are accompanied by “blooming” (blue color - blue-violet - brown - golden). They also take a very long time to dissolve - within 2 months.

Treatment and prevention

Hemophilia cannot be completely eliminated, but the quality of life of a patient who is constantly receiving treatment does not suffer. Without treatment, hemophilia leads to permanent disability and quite often to premature death. Even at the beginning of the 20th century, the life expectancy of a hemophilia patient was short. Today, with special treatment, a patient with hemophilia can live as long as a healthy man. Patients with hemophilia are treated by a hematologist. Currently being released whole line drugs that can restore blood clotting in patients with hemophilia. Most of these drugs are dried blood concentrates from healthy people. Treatment with factor concentrates helps maintain the required level of blood clotting. The Russian drug industry uses domestic donor plasma and cryoprecipitate, which are semi-finished products for the production of blood clotting concentrates. They are administered intravenously. Currently, attempts are being made to launch the production of drugs against hemophilia using genetic engineering methods using stem cells.

Treatment for hemophilia also involves injecting the patient's deficient blood clotting factor directly into the patient's vein. Therapy can either prevent bleeding or reduce its consequences, and try to prevent the development of complications. Bleeding stops when enough clotting factor reaches the injured area. If treatment is carried out on early stage, the likelihood of continued bleeding is sharply reduced. If treatment is delayed, bleeding continues and spreads, causing more severe tissue damage, which in turn increases the likelihood of subsequent bleeding. The frequency of use is individual and depends on the severity of the disease and the frequency of exacerbations.

Unfortunately, the disease has not yet been defeated. Treatment for hemophilia today is available mainly to patients living in developed countries, where highly effective and virus-safe concentrates of blood clotting factors are used. In the Russian Federation, there is currently no technology that allows the production of blood products that correspond to imported analogues. In Russia, the problems of hemophilia are dealt with by the Hematological Research Center of the Russian Academy of Medical Sciences, which has created a special department for outpatient care for patients suffering from hemophilia, with round-the-clock mobile teams. If you require further information regarding available diagnostic capabilities, contact your nearest hemophilia treatment center or hemophilia community organization where there are appropriate specialists. The concept of comprehensive care in hemophilia treatment centers is an art approach to the treatment of this disease, where the patient's condition is assessed by a multidisciplinary team, which usually consists of a hematologist, orthopedist, nutritionist, infectious disease specialist, social worker, physical therapist, dentist, rehabilitation specialist, psychologist and genetic counselor. This staff develops a coordinated plan of care for the patient and expects that the plan will be accepted by the patient's local pediatrician.

Hemophilia is considered one of the most expensive diseases in the world, since drugs made from human donor plasma are used for prevention, treatment, and surgical operations. It is important for patients with hemophilia to know and remember that drugs such as ACETYLSALICYLIC ACID (ASPIRIN), BRUFEN, INDOMETHACIN, butazolidines, ANALGIN are strictly contraindicated for them. Such drugs have the ability to thin the blood and further increase the likelihood of bleeding. For cuts and injuries, a patient with hemophilia immediately requires first aid; the wounds should be cleared of clots and washed with an antibiotic solution. Then apply gauze soaked in one of the hemostatic agents (adrenaline, hydrogen peroxide) and hemostatic sponges. It is also possible to use breast milk and human and animal blood serum. A bleeding wound must be well packed, that is, closed and clamped. And of course, in such cases you should immediately go to the hospital! The next stage of treatment is blood transfusion. Small doses are usually sufficient to stop bleeding. With significant blood loss, the doses of blood transfused increase. Since intramuscular and subcutaneous injections create hematomas, patients with hemophilia are given drugs intravenously.

If your child has hemophilia...

• Tell your doctor immediately if your child is injured, even minor. Injuries to the head, neck or abdomen are especially dangerous. If your child is having surgery or a tooth extraction, talk to your doctor about what steps to take.
• Monitor your child closely for signs of extensive internal bleeding, such as severe pain (including in the abdomen), swelling of a joint or muscle, restricted joint movement, blood in the urine, tarry stools, and severe headache.
• Since the child is receiving infusions of blood components, there is a risk of contracting hepatitis. The first signs of infection may appear from 3 weeks to 6 months after the child received blood components. Symptoms of the disease: headache, fever, poor appetite, nausea, vomiting, abdominal pain and pain in the liver (in the hypochondrium and in the center of the abdomen, change in the color of urine darkening) and stool (light gray), jaundice skin and sclera.
• Never give your child ASPIRIN, as it can cause bleeding, as well as drugs such as BRUFEN, INDOMETHACIN, butazolidines, ANALGIN. In any case, before giving your child a new medicinal product, consult your doctor!
• If you have daughters, contact a specialized medical Center to check whether they are carriers of hemophilia. Sick male family members need psychological help.
• Make sure your child always wears a medical identification bracelet - this is information about the disease and blood type that can come in handy at any moment. Such patients should have it, so that in emergency situations, any person providing assistance to such a patient for the first time can more easily navigate the situation. Any person with hemophilia should have this information.
• Teach your child to regularly and thoroughly brush their teeth with soft brushes. Avoid tooth extraction.
• Protect your child from injury, but do not impose unnecessary restrictions that would delay his development. Sew padded knee and elbow pads into his clothing to protect his joints in case of falls. Older children should not play contact or traumatic sports (such as football), but they can, for example, swim or play golf.
• Apply cold compresses and ice to the affected area, and light pressure bandages to bleeding areas. To prevent the bleeding from returning, limit your child's activities for 48 hours after the bleeding has stopped. Elevate the injured body part.
• To avoid frequent hospitalizations, you should learn how to administer blood components with clotting factors. Do not hesitate to administer clotting factor concentrate if bleeding begins. Keep the concentrate ready at all times, even while on vacation.
• Make sure your child is regularly examined by a hematologist.
• If bleeding begins, seek medical help immediately!

Hemophilia is a very dangerous diseases. It still leads to high mortality. Therefore, the most important preventive measure- medical and genetic counseling for those getting married. It is not recommended to have children when a hemophilia patient and a woman who is a carrier of hemophilia are married. In a healthy married woman

with a patient with hemophilia, at 14-16 weeks of pregnancy special method Transabdominal amniocentesis (puncture of the fetal bladder through the anterior abdominal wall and the wall of the uterus to obtain amniotic fluid for research) determines the sex of the fetus. If the disease is detected, in order to avoid the birth of a sick child, termination of pregnancy is recommended.