The main causes of hemophilia. Hemophilia - causes, signs and treatment

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Hemophilia is a disease of the hemostasis system inherited from generation to generation, characterized by impaired synthesis of coagulation factors VIII, IX or XI, the deficiency of which causes a slowdown in blood clotting time and increases the duration of bleeding. The carrier of hemophilia is the female, while men are mostly ill with it. Boys born to such a woman in 50% of cases inherit such a disease. In the carrier itself, signs of the disease are usually not observed.

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

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

The onset of the disease is usually infancy, causing education pathological bleeding, which are longer than similar processes in healthy people. Therefore, this disease is one of the most significant in modern pediatrics.

Causes of the disease

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

Hemophilia can be characterized by long-term bleeding caused by the absence of clotting factors and a sufficient number of platelets. Their deficiency predetermines the difficulty of hemostasis.

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

Symptoms of hemophilia

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

recurring nosebleeds;
detection of blood elements in urine and feces;
extensive hematomas formed after minor injuries;
persistent bleeding resulting from tooth extraction or injury;
hemarthrosis (intra-articular bleeding) causes blood to reflux into the joints, causing limitation of its mobility and swelling.

Symptoms of the disease in childhood

Hemophilia in children severe degree develops during the first year of their life. Its symptoms are as follows:

bleeding from the umbilical wound;
hematomas, which, having an initial point character, spread to different areas bodies and are localized both subcutaneously and on mucous membranes;
bleeding that occurs after preventive vaccinations and other injections.

In addition to the above signs of the disease, in children starting from 2–3 years of age, symptoms such as articular, as well as small capillary hemorrhages (petechiae), which form without a reason with small physical activity. Hemophilia in children aged 4 years and up school age often presented:

recurrent nosebleeds;
discharge from the gums;
the periodic presence of blood in the urine (hematuria), the indicator of which is above the normal threshold;
extensive bruising (hemarthrosis), development and long course which, contributes to the appearance of chronic contractures, arthropathies, as well as synovitis;
detection in the child's feces of blood elements, indicating initial stage progressive anemia;
progression of bleeding localized in internal organs;
possible hemorrhages inside the brain, threatening severe CNS injury. Children with this complication are characterized by reduced appetite, lean physique and indiscipline.

In such children, the development of non-intensive, but prolonged bleeding, which is formed after intramuscular injection injections. Therefore, they are recommended to be vaccinated and administer drugs subcutaneously, using a thin needle.

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

leukopenia;
hemolytic anemia;
disabling renal failure;
thrombocytopenia.

Due to the low immune response of the body, which developed as a result of this disease, children with hemophilia often develop with age different kind complications.

Symptoms of the disease in women

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

copious menstrual flow;
bleeding that occurs after the removal of the palatine tonsils or tooth;
nosebleeds;
von Willebrand's disease, which causes unexplained episodic bleeding.

Symptoms of the disease in men

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

retroperitoneal bleeding. Their development gives rise to acute diseases peritoneal organs, resolvable only by surgery;
the formation of bruises, indicating both subcutaneous and intramuscular hemorrhages. Their danger lies in the compression of the vessels supplying the tissues, which leads to tissue necrosis. There is also a risk of blood poisoning due to infection in it;
posthemorrhagic anemia caused by nasal, gastrointestinal bleeding, bleeding from the gums, as well as urinary canals;
hemorrhages in bone tissue, leading to its necrosis;
gangrene and possible paralysis resulting from giant hematomas;
bleeding of the mucous lining of the throat, as well as the larynx. May occur under stress vocal cords as well as coughing;
articular hemorrhages contribute to the progression of osteoarthritis, which ultimately leads to disability. The reason for this is the limitation of joint mobility and atrophy of the muscles of the limbs.

To spend surgical intervention, such patients are preliminarily injected with antihemophilic drugs to avoid large blood loss.

Diagnosis of the disease

Currently, the disease is successfully diagnosed by determining the nature of inheritance. And although the symptoms different types diseases are the same, however, hemophilia A and B - in men and C - in women are successfully differentiated through the complex laboratory research, including:

determination of numerical indicators of blood coagulation factors;
thrombodynamics, which allows to detect such disorders of hemostasis as hypo- and hypercoagulation;
thrombin time, illustrating the activity of blood clotting factors;
mixed - APTT. Such a study allows to identify violations of hemostasis;
temporary blood clotting test;
analysis of the D-dimer index to exclude thromboembolism;
quantitative calculation of fibrinogen in the blood;
thromboelastography for registration of hemostasis and fibrinolysis processes;
The thrombin generation test illustrates the state of the hemostasis system.

Such A complex approach to determine the type and severity of the disease allows you to choose the optimal treatment that helps to facilitate the course of life and prolong it.

Unfortunately, this disease in our time is incurable, it is only possible to carry out maintenance therapy and control periodically manifested symptoms. It is advisable to treat hemophilia in clinics specializing in this disease. In this case, the patient must have a “Book of a patient with hemophilia”. It must necessarily contain data on the patient's blood group, his Rh factor, the type of disease and the severity.

Treatment of the disease must begin, first of all, with the definition of its type. Further therapy is based on the introduction of the missing clotting factors into the blood. They are obtained by collecting donated blood, as well as the blood of animals grown under certain conditions specifically for these purposes. But here it is important to prevent an overdose of the factor, since it is possible to bring the patient to anaphylactic shock. Yes, the calculation should be in the following way: no more than 25 ml of clotting factor per 1 kg of patient weight, administered within 24 hours.

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

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

in case of type A disease, a dry concentrate of "Cryoprecipitate", antihemophilic, as well as fresh plasma, transferred directly from the donor, is transfused;
with type B disease, the patient is given a concentrate of the missing clotting factor, as well as freshly frozen donated plasma;
in type C disease, administration of dry fresh frozen plasma is necessary.

Further treatment of the disease is symptomatic:

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

The most important thing in the fight against the disease is prevention. So families in which a mutated gene is found in women or men are diagnosed with this disease are not recommended to have children naturally. If healthy woman bears a child from a male carrier of the disease, then for a period of 8 to 14-16 weeks after determining the sex of the baby, if it is a girl, it is recommended to terminate the pregnancy to prevent the spread of this pathology. The only way out here will be the implementation of the IVF procedure, carried out under certain conditions.

People with hemophilia are encouraged to avoid injury from an early age. various kinds, they are forbidden to engage not only physical labor, but also participate in traumatic sports such as hockey, boxing, football, etc. Of the sports disciplines, only swimming is allowed.

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

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

Through prevention and treatment, hemophilia can be partially neutralized, but it is still impossible to completely get rid of its manifestations. But people with a similar diagnosis, subject to the prescriptions of a hematologist, as a rule, live to old age.

Is everything correct in the article with medical point vision?

Answer only if you have proven medical knowledge

date world day hemophilia - April 17 - dedicated to the birthday World Federation of Hemophilia founder Frank Schneibel.

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

Historical reference

Scientific research hemophilia has been going on since the 19th century. The term "hemophilia" was introduced in 1828 by the Swiss physician Hopf. The first mention of children who died from blood loss is in the holy book of the Jews - the Talmud. In the 12th century, Abu al-Qasim, a physician at the court of one of the Arab rulers of Spain, wrote of several families in which male children died from minor injuries.

30 years of life

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

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

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

Inherited Diagnosis

Hemophilia is hereditary disease. Hemophilia genes are located on the sex X chromosome, which is passed from grandfather to grandson through a healthy daughter who carries 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 in 5000 male infants 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 genes for the disease.

The most famous carrier of hemophilia in history was the English Queen Victoria. 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 to support this version.

Live. Why did doctors give Queen Victoria chloroform?

The Queen of England passed this disease on to the "inheritance" of the royal families of Germany, Spain and Russia. One of Victoria's sons suffered from hemophilia, a number of grandchildren and great-grandchildren, including a Russian Tsarevich Alexei Nikolaevich. That is why the disease got 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 has hematomas on the head, possibly prolonged bleeding from the umbilical cord. When a child takes its first steps, the inevitable falls and bruises occur, and clear symptom it becomes impossible to stop the bleeding in the usual way.

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

A characteristic sign of hemophilia is hemarthrosis - hemorrhage into the joints, which occurs spontaneously and for no apparent reason.

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

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

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

Myths and facts

The patient can die from a small scratch. This is not so, the danger is represented by large injuries and surgical operations, tooth extraction, spontaneous internal hemorrhages into muscles and joints.

Hemophilia only affects men. This is not entirely true. Women also suffer from hemophilia, but it is extremely rare. 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 physiology. female body: monthly blood loss with poor blood clotting leads to early death.

Patients with hemophilia should not have surgery. So it is, any surgical interventions are allowed only for health reasons and with the possibility of organizing replacement therapy coagulation factor preparations. In addition, patients with hemophilia should not engage in physical education and sports, it is also dangerous for them to inject medications 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 is 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.

Was known in ancient world. However, it was first identified in independent disease and described in detail in 1874 by Fordyce. Hemophilia is a very serious and dangerous disease.
Hemophilia - This is a hereditary disease that is characterized by an increased tendency to bleed. The cause of this disease is the presence of a “bad” mutation in the sex X chromosome. This means that there is a certain section (gene) in the X chromosome, which causes such a pathology. This altered X-chromosome gene is the actual mutation (recessive). Due to the fact that the mutation is in the chromosome, hemophilia is inherited, that is, from parents to children.

How do genes work and what are genetic diseases?

Consider the concept of recessive and dominant genes, since this is necessary for further understanding of the features of the manifestation of hemophilia. The fact is that all genes are divided into dominant and recessive. As you know, each person receives a set of genes from both parents - mother and father, that is, has two variants of the same gene. For example, two genes for eye color, two for hair color, and so on. Moreover, each of the genes can be dominant or recessive. The dominant gene is shown Always and suppresses the recessive, but the recessive appears - only when it is on both chromosomes - maternal and paternal. For example, the gene for brown eyes is dominant, while the gene for blue eyes is recessive. This means that if a child receives the gene for brown eyes from the mother, and the gene for blue eyes from the father, then he will be born with brown eyes, that is, the dominant brown-eyed gene will appear and suppress the recessive blue-eyed gene. In order for a child to be born with blue eyes, it is necessary that both the mother and the father receive two recessive blue-eyed genes, only in this case a recessive trait will appear - Blue eyes.

Why is the disease transmitted through the female line, and only men get it?

Let's get back to hemophilia. The peculiarity of hemophilia is that women are carriers of this pathology, and men are ill. Why is it so? The hemophilia gene is recessive and is located on the X chromosome. Its inheritance is sex-linked. That is, for its manifestation, the presence of two X chromosomes with such a mutation is necessary. However, a woman has two sex X chromosomes, while a man has X and Y chromosomes. Therefore, a woman must have a mutation in both X chromosomes in order to manifest the disease - hemophilia. However, such a fact is impossible. Why? When a woman becomes pregnant with a girl with mutations in both X chromosomes, at the 4th week of pregnancy, when the process of formation of the fetus's own blood begins, a miscarriage occurs, since such a fetus is not viable. Therefore, a girl can only be born with a mutation in one X chromosome. And in this case, the disease will not manifest itself, since the dominant gene of the second X chromosome will not allow the recessive gene leading to hemophilia to appear. Therefore, women are only carriers of hemophilia.

Boys have one X chromosome, and the second Y, which does not contain the hemophilia gene. In this case, if there is a recessive hemophilia gene on the X chromosome, there is no other dominant gene on the Y chromosome to suppress this recessive one. Therefore, the boy shows the gene, and he suffers from hemophilia.

Hemophilia in a woman is a "Victorian disease"
Only one example of a woman with hemophilia is known in history - this is Queen Victoria. However, this mutation occurred in her after birth, so this case is unique and is an exception, which confirms general rule. In connection with this exceptional fact, hemophilia is also called the "Victorian disease" or " royal disease».

What are the types of hemophilia?

Hemophilia is divided into three types A, B and C. In hemophilia, all three types are absent in the blood. required amount a protein called a clotting factor that helps blood clot and stop bleeding. There are only 12 such clotting factors. In hemophilia A, there is a lack of factor number VIII in the blood, in hemophilia B, there is a lack of factor number IX, and in hemophilia C, factor number XI. Hemophilia type A is classic and accounts for 85% of all types of hemophilia, hemophilia B and C account for, respectively, 15% of total number all cases of hemophilia. Type C hemophilia stands out because its manifestations are significantly different from those of hemophilia B and A. The manifestations of hemophilia A and B are the same. Hemophilia C is most common in Ashkenazi Jews, and women can get sick, not just men. To date, hemophilia C is generally excluded from hemophilia, so we will consider hemophilia A and B.

What is dangerous for patients with hemophilia?

What is the manifestation of hemophilia? What are its signs? There is an opinion among people that a patient with hemophilia should be protected from the slightest minor injuries: cuts, bites, scratches, and so on. Since these minor damage can lead to death due to blood loss. However, this is a clear exaggeration. Severe injuries, severe bleeding, tooth extractions and surgical operations are dangerous for such people. Of course, you should not neglect safety measures - you need to beware of bruises, injuries, cuts, etc. Particularly dangerous are lacerations. It is especially necessary to carefully explain the norms of behavior to children and adolescents with hemophilia, since children and adolescents have a high physical activity, a lot of contact games, which can lead to accidental injuries.

Congenital and childhood symptoms of hemophilia

In the presence of hemophilia A or B, a child from birth has the following symptoms:

the formation of hematomas (bruises) on the most various places(under the skin, in the joints, in the internal organs). These hematomas are formed due to blows, bruises, injuries, falls, cuts, etc.
blood in urine
profuse bleeding due to trauma (tooth extraction, surgery)

In newborns, as a rule, there are hematomas on the head, buttocks, bleeding develops from the bandaged umbilical cord. Babies also often bleed and bleed during teething. IN childhood bleeding from the nose and mouth occur quite often. Cause of nasal and mouth bleeding serves as biting the cheek, tongue, picking the nose and wounding the nasal mucosa with a fingernail, etc. Trauma to the eye followed by bleeding into the eye can lead to blindness. It is noteworthy that these symptoms are especially pronounced in early age, and as a person grows older, they become less pronounced. However, the main property - the main symptom - the tendency to bleed, of course, remains.

When does bleeding occur in patients with hemophilia?

Patients with hemophilia are characterized by the development of bleeding not only immediately after the injury, but also after a certain period of time, the development of re-bleeding. Such repeated bleeding can develop in a few hours, and after a few days. For these reasons, if a patient with hemophilia needs surgery or tooth extraction, then it is necessary to carefully prepare the person for surgery and carry it out only if absolutely necessary. Prolonged bleeding also contributes to the formation of posthemorrhagic anemia.

Which areas are more likely to bleed in people with hemophilia?

The frequency of hemorrhages in the joints with hemophilia reaches 70%, the frequency of formation subcutaneous hematomas(bruises) - 10-20%. And most rarely, with hemophilia, hemorrhages occur in the central nervous system and gastrointestinal bleeding. Hematomas are mainly localized in those places where the muscles experience the maximum load - these are the muscles of the thighs, back and lower leg. If a person uses crutches, then hematomas appear and in armpits.

Hematomas are common in people with hemophilia.

Hematomas of patients with hemophilia resemble a tumor in appearance and resolve over a long period of time, which is up to 2 months. Sometimes, when the hematoma does not resolve for a long time, it may be necessary to open it. With the formation of extensive hematomas, compression of surrounding tissues and nerves is possible, which leads to impaired sensitivity and movement.

Hemoarthritis is a common manifestation of hemophilia

Bleeding into the joints is the most specific symptom for hemophilia. Hemorrhages in the joints are the cause of the formation of joint diseases in patients with hemophilia - hemoarthrosis. This damage to the joints leads to diseases of the entire musculoskeletal system, and, as a result, to disability. Hemoarthrosis develops most rapidly in patients with severe forms of hemophilia, in other words, the more severe hemophilia is, the faster a person develops hemoarthrosis. The first signs of hemoarthrosis develop by 8-10 years. In severe hemophilia, hemorrhages in the joints occur spontaneously, and with easy course- due to injury.

Blood in the urine, kidney disease in hemophilia

Hematuria (blood in the urine) may be asymptomatic or accompanied by acute pain, an attack of renal colic, which occurs when blood clots pass through the urinary tract. Patients with hemophilia may develop kidney diseases such as pyelonephritis, hydronephrosis, and capillary sclerosis.

What medicines should not be taken by people with hemophilia?

Patients with hemophilia are strictly contraindicated drugs that reduce blood clotting, such as acetylsalicylic acid(aspirin), butadione, etc.

Signs of hemophilia in newborns

If a newborn child does not stop bleeding from the umbilical cord for a long time and there are hematomas on the head, buttocks and perineum, it is necessary to be tested for hemophilia. Unfortunately, it is currently impossible to predict the birth of a child with hemophilia. There are methods of prenatal (prenatal) diagnosis, but they are not widely used due to their complexity. If a boy has hemophilia in the family, then his sisters are carriers of the hemophilia gene and they may have children with hemophilia. Therefore, family history is of great importance in predicting the birth of children who may suffer from this disease.

Diagnosis of hemophilia

The following laboratory methods are used to diagnose hemophilia:

determination of the amount of coagulation factors in the blood
determination of blood clotting time
the amount of fibrinogen in the blood
thrombin time (TV)
prothrombin index(PTI)
international normalized ratio (INR)
activated partial thromboplastin time (APTT)
mixed - APTT

In the presence of hemophilia, there is an increase above normal values of the following indicators: blood clotting time, activated partial thromboplastin time (APTT), thrombin time (TV), international normalized ratio (INR). There is also a decrease below normal values of the prothrombin index (PTI), but normal values mixed - APTT and the amount of fibrinogen. The main indicator characterizing hemophilia A and B is a decrease in the concentration or activity of coagulation factors in the blood, VIII in hemophilia A and IX in hemophilia B.

Treatment of hemophilia

This disease is incurable, it can only be controlled and carried out supportive therapy. For this, people suffering from hemophilia are given solutions of a coagulation factor, which they do not have enough in their blood. Currently, these clotting factors are obtained from the blood of donors, or the blood of specially bred animals. With proper treatment, the life expectancy of people with hemophilia does not differ from the life expectancy of people who do not suffer from this pathology. However, due to the fact that drugs for the treatment of hemophilia are made from the blood of donors, patients with hemophilia are at risk for such dangerous diseases How

Manifestations of hemophilia have been described in the writings of physicians and medical historians of ancient times. In those distant centuries, doctors faced the problem of increased bleeding and deaths from her. But the cause of this disease was poorly understood, and the treatment was also ineffective.

This disease received its official name and definition in the 19th century.

Etiology

Hemophilia is a hereditary disease in which there is a violation of the process of blood clotting (coagulation). As a result, the patient has bleeding into the joint cavities, muscle tissues to all organs of the body.

Hemophilia is a pathology in which there is increased bleeding. medical classification refers this disease to the group of hemorrhagic diathesis, hereditary coagulopathy, conditions in which blood clotting is impaired. In severe cases, patients become disabled.

Representatives of the royal dynasties often suffered from this disease, which is why hemophilia was called the royal, or Victorian disease (in honor of Queen Victoria, the only female representative who suffered from this disease).

How to live with hemophilia? You will find the answer to this question by watching the video review:

Reasons for the development of hemophilia

All information about a person is stored in the chromosomes located in the nucleus of the cell. Each trait that provides similarity with parents is encoded by a section of the chromosome - the gene.

Pathological changes in genes (mutations) lead to a number of diseases.

Humans have 23 pairs of chromosomes in total. The last pair is the sex chromosomes, they are denoted by the letters X and Y. In women, this pair consists of two X chromosomes (XX), in men, X and Y (XY).

The mutated gene responsible for the inheritance of hemophilia lies on the X chromosome. Does this mean that a sick child will be born from a parent with this disease? No. Here it is necessary to understand the concept of "dominant" and "recessive" gene.

The scheme of transmission of hereditary traits

A born child receives two genes that are responsible for one trait, say, hair color. The first gene is from the mother, the second is from the father. Genes are dominant (predominant) and recessive (minor). If a child inherits from mother and father two dominant gene, then this sign will appear. If two are recessive, then, too, it is he who will appear. If a dominant gene is inherited from one parent, and a recessive one from the second, then the sign of the dominant gene will appear in the baby.

The gene that carries hemophilia is recessive. It is transmitted only with the X chromosome. This means that in a female child, in order for this disease to occur, it is necessary to have recessive genes on both X chromosomes. If this happens, then the child dies after the formation of his own hematopoietic system. This happens at 4 weeks pregnant. If the sign of hemophilia is located only on one X chromosome, and the second carries a healthy gene, then the disease will not manifest itself, since the dominant healthy gene will suppress the recessive one. Therefore, a woman can be a carrier of the disease, but does not get sick with it.

Varieties of hemophilia

Increased bleeding in this disease is due to a violation of the blood coagulation process, lengthening its time. The problem is caused by a change in blood clotting factors, of which there are 12.

Practical medicine is faced with three types of disease:

Hemophilia A. Caused by insufficient content Factor VIII(antihemophilic globulin). This type of disease is the main (classic), since about 85% of patients with hemophilia suffer from it. This variant of the disease is accompanied by the most severe bleeding;
Hemophilia B. It develops due to deficiency of plasma factor IX (Christmas). With this type of pathology, the formation of a coagulation plug of the secondary level is disrupted. Occurs in 10% of cases;
Hemophilia C. This variant causes a lack of clotting factor XI. To date, it is excluded from the classifications of hemophilia and is highlighted in individual disease, since it differs in clinical signs from true hemophilia. It is common among Ashkenazi Jews, men and women are ill.

How does hemophilia manifest itself? Complaints and symptoms

Hemophilia manifests itself:

In young children, hematomas often appear on the head, in the buttocks, and shoulder blades. Physiological teething is accompanied by constant bleeding. Also, bleeding from the mucous membrane of the nose and mouth is often observed when biting the tongue and cheeks.

Eye injury is a particular concern. Bleeding in this case can result in complete blindness.

With age, the manifestations become more moderate, bleeding is smoothed out, their danger is no longer so great.

In everyday life, there is a myth about cases of bleeding of patients with hemophilia from the slightest cut or scratch. Actually it is not. Dangerous are major surgical operations and internal bleeding of unknown origin. Most likely, a combination of bleeding mechanisms in the disease and fragility, permeability of the walls of blood vessels.

note: Patients with hemophilia have repeated (recurrent) bleeding after injury. Against the background of a stop, after a few hours or days, the process may repeat.

Therefore, careful monitoring of such patients is necessary. Frequent bleeding causes anemia over time.

In 70% of all cases, intraarticular bleeding is observed. Subcutaneous accounts for about 20%, most often in the region of maximum muscle loads. About 5-7% of bleeding occurs in the gastrointestinal and cerebral vessels.

Developed hematomas can last up to 2 months. In case of complications (suppuration), it is necessary to open it and remove necrotic masses.

Bleeding into the joints (hemarthrosis) can lead to disability.

Complication of bleeding from renal tissue I can be:

pain syndrome;
renal colic (mechanical irritation urinary tract blood clot)
inflammation of the renal pelvis ();
dropsy of the kidneys (hydronephrosis);
destruction and sclerotic changes in the capillaries of the kidneys.

How to suspect hemophilia in a newborn

Unstoppable, prolonged bleeding from the umbilical cord, bruises and bruises on the head, convex parts of the baby's body require an immediate blood test to detect hemophilia. These studies should be supplemented by a thorough interview with a relative in order to identify cases of the disease in the family.

Confirmation of the diagnosis of hemophilia by laboratory data

The diagnosis of hemophilia is characterized the following indicators blood:

decrease in concentration ( main feature) and the activity of coagulation factors (VII in form A, IX in form B) below 50%;
an increase in blood clotting time of more than 10 minutes;
unchanged amount of fibrinogen;
increased norm of thrombin time;
a decrease in the prothrombin index (PTI);

How to treat hemophilia and complications

There are no radical ways to influence the cause of the disease. Symptomatic, facilitating treatment with supportive drugs is carried out.

For this, patients are administered:

solutions of concentrates of missing coagulation factors (from 4 to 8 doses per day with heparin 1500 units), drugs prepared from donor blood, also from hematic components of animal tissue;
fresh plasma preparations, cryoprecipitate (depending on the severity, from 10 to 30 units per 1 kg of weight, 1 time per day), antihemophilic (from 300 to 500 ml after 8-12 hours) and donor plasma (10-20 ml per kg per day). Injections can be done every day, or every other day;
with severe anemia - blood transfusion, erythrocyte mass;
glucose solution drip, polyglucin, reambirin, etc.;
plasmapheresis (to remove antibodies to clotting factors), prednisolone.

Hemarthroses in combination with the above methods are supplemented by puncture joint bag for aspiration (selection) of bloody contents with subsequent administration hormonal drugs. The diseased limb requires maximum immobility, up to immobilization. Rehabilitation is carried out using physiotherapy exercises and physiotherapy methods.

Complicated cases with the appearance of contractures, osteoarthritis, pathological fractures may be supplemented surgical treatment in orthopedic departments.

note: the appointment of non-steroidal anti-inflammatory drugs for patients with hemophilia is strictly contraindicated due to the danger possible development bleeding.

Preventive actions

They begin with the need for counseling in a medical genetic consultation, determination of the hemophilia gene on the X chromosome.

With an existing disease, dispensary registration is necessary, maintaining a daily regimen and a lifestyle that excludes physical overload and trauma. Swimming lessons recommended Gym with projectiles that do not cause injury.