Hemophilia - causes (inherited recessive gene), likelihood of hemophilia, types, symptoms and signs, diagnosis, treatment principles and drugs. Features of hemophilia in children, men and women

The date of World Hemophilia Day - April 17 - is timed to coincide with 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.

History reference

30 years of life

Hemophilia is a disease associated with poor blood clotting. 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. Factor VIII deficiency is called hemophilia A, factor IX deficiency is called 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 of the sick children lived to adulthood, the average life expectancy did not exceed 30 years. But today, medicine boasts modern drugs that 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.

Inherited Diagnosis

Hemophilia is a 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 the child takes the first steps, the inevitable falls and bruises occur, and the inability to stop the bleeding in the usual ways becomes a clear symptom.

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 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.

There is currently no cure for the disease, but hemophilia can be successfully controlled by injecting 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 major injuries and surgical operations, tooth extraction, spontaneous internal hemorrhages in 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 if it is possible to organize replacement therapy with blood coagulation factor preparations. In addition, patients with hemophilia should not engage in physical education 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. An exception can only be the in vitro fertilization (IVF) procedure, but subject to a number of conditions. Diagnose the presence of hemophilia in the fetus from the 8th week of pregnancy.

Hemophilia is a disease in which the mechanism of blood clotting is disrupted. The unusual frequency with which this disease occurs among different generations of the same family, has long led to the suspicion that hemophilia is a hereditary blood disease. It has been established that women, without getting sick themselves, carry hemophilia from one family to another.

A typical example of the transmission of the disease through the blood of women in European history is the family tree of Queen Victoria of England, from whom the disease spread to many other royal houses. The son of the last Russian Tsar suffered from this disease.

However, hemophilia affects not only aristocratic dynasties. It can occur in any child in whose family there were those who suffered from this blood disease.

Hemophilia is a congenital hereditary disease. Of course, it is the most famous among genetically determined blood diseases.

Hemophilia is expressed in increased bleeding, whether it is as a result of external, even the smallest damage, or internal bleeding in tissues, joint bags, etc. An injury that causes almost non-stop bleeding can be extremely minor.

This blood disease is serious consequences for internal organs and joints, I call accompanying illnesses and deviations.

Causes of hemophilia are genes

Hemophilia only affected males, while females were responsible for the genetic component they passed on to their offspring. This mode of inheritance arises from the fact that genetic predisposition disease is linked to the X chromosome.

Let's briefly consider the structure of sex chromosomes. In women, both are the same length and shape, so a pair of chromosomes is denoted by the letters XX. In men, one of them is the same as in women, but the second has a different shape and length, for this reason the pair of chromosomes is called XY. Each offspring receives one chromosome from the mother and one from the father, with all the combinational possibilities that this conformation has. If a woman has a sick, i.e., associated with a predisposition to blood disease, X chromosome, then this does not have direct consequences for the carrier, because this chromosome is compensated by the second, healthy one. The woman herself does not have any symptoms, but she can pass on her predisposition to the disease by inheritance. And if a man inherits this diseased X chromosome, then its defect is not compensated by a second healthy chromosome. Therefore, he has hemophilia. If both X chromosomes of a woman had a genetic defect, then she would not be viable.

The X chromosome carries the genetic information that is necessary for a fetus to develop in the womb. normal factors blood clotting. In a hemophilic, it is in this place that there is a defect in the gene information. This pathological hereditary predisposition causes the bleeding disorder that underlies hemophilia.

It is known that in a normal individual, bleeding resulting from injury soon stops due to the action of three mechanisms: the blood vessels constrict, platelets are deposited in the injured area, and the blood coagulates, thus closing open wound.

Blood coagulation is a complex biochemical process in which fibrinogen, a protein contained in plasma, changes its structure. This occurs under the influence of various factors, among which the release of tissue thromboplastin is very important. The formation of thromboplastin occurs with the help of numerous substances that are found in small amounts in the blood. One of these, factor VIII, or antihemophilic factor (AGF), in those affected by hemophilia is absent or insufficiently present. The term hemophilia is understood, in fact, two diseases that have the same symptoms, but different reasons occurrence.

Types of hemophilia

There are two types of hemophilia, namely:

• Hemophilia A, or classic hemophilia
• Hemophilia B, or Christmas disease
• Hemophilia C is extremely rare and affects mostly Jews.

The second type is less common. Type A lacks factor VIII, hemophilia B we are talking about factor IX, or plasma, thromboplastin, called the Christmas factor. It is also important for blood clotting, and it becomes almost impossible in its absence.

The third type arises as a result of a lack of factor XI. Due to the non-standard clinical picture, not so long ago this type was isolated separately and is not included in the varieties of hemophilia.

What is acquired hemophilia?

Hemophilia is inherited. However, there have been cases when manifestations of this disease were observed in adults who had not previously been ill and had no patients in the family. Acquired hemophilia is always a variety of type A. In half of the cases, doctors have not been able to understand the cause of the disease. In other cases, the reason was cancerous tumors, taking certain drugs and other reasons that cannot be systematized.

Signs, symptoms and clinical picture of hemophilia

Clinical picture characterized by an increased tendency of patients to blood loss. Within a few days after birth, unstoppable bleeding may occur, which endangers the life of the newborn. But in some cases, hemophilia only shows up when the child starts running. Then parents can observe an increased tendency to bruises, bruises and bleeding in the skin and mucous membranes after banal microtraumas, such as light shocks, concussions, etc., which indicates this blood disease.

Nosebleeds or bleeding in the mouth (teething) are also common at this age. In older children, after tooth extraction or tonsillectomy, heavy bleeding. These are the first signs of hemophilia. Bleeding can also occur in the internal organs - the liver, spleen, intestines, kidneys and brain, or, as is often the case, in the joints.

In this case, they talk about hemophilic arthropathy or hemarthrosis. As a result of such intra-articular bleeding, especially in the knee, there is a danger of destruction of bones and cartilage and a significant limitation of the movements of the affected joint, up to their complete absence.

Hemophilia is a disease in which symptoms can occur with varying intensity. The severity of symptoms is proportional to the severity of the genetic defect. If this clotting factor is completely absent, then the patient is in extreme danger. In severe cases, death occurs within early childhood due to a brain hemorrhage, too much blood loss after injuries, or even because blood accumulates in the neck, and this leads to suffocation.

An older child is increasingly aware that he is sick, and learns to control his activity, if possible, to avoid accidents and injuries. If young patients have experienced early childhood, then they can rightfully hope for a long life. active life. It is impossible to foresee more precisely what development the disease will eventually take. For example, infections can further increase the tendency to bleed. Sometimes you can observe the clinical course, which is characterized by the presence of several phases.

There is a period when injuries cause only mild blood loss or even no bleeding at all, then again there comes a time when extensive, practically unprovoked bleeding occurs. Those. hemophilia and its symptoms can come in waves.

Diagnostics

To diagnose hemophilia, a person will have to visit certain specialists, such as a pediatrician, geneticist, hematologist, and neonatologist. If the disease manifests itself in childhood, then you should additionally consult a pediatric gastroenterologist, otolaryngologist, traumatologist and neurologist.

If the couple is at risk, then the best option is full examination at the planning stage. To identify the carriage of a defective gene, it is necessary to undergo a molecular genetic examination and pass an analysis for genealogical data. You can also make a diagnosis using a chorionic biopsy or amniocentesis, as well as DNA testing of cellular material.

After birth, diseases can be diagnosed using laboratory research hemostasis.

To clarify the diagnosis, tests may be required:

• determining the amount of fibrinogen
• determination of the prothrombin index
• thrombin time determination
• mixed definitions

Couples who are expecting a baby and are at risk should consult with specialists and conduct appropriate studies from the beginning and throughout the pregnancy.

Hemophilia cannot be cured, the patient who suffers from this blood disease all his life has to deal with the symptoms and pathologies caused. That is, hemophilia is an incurable disease.

It would be irresponsible not to explain to the parents of a child with hemophilia how dangerous this disease is. However, they must not think that their child is lost. Today, even a person with haemophilia can lead an almost normal life.

Replacement therapy is needed to control the tendency to bleed. This means that the missing coagulation factor must be replaced by its introduction from the outside. This can be done by infusion of plasma or whole blood, or by using a factor concentrate (VIII or IX) itself.

It is extremely important that the clotting factor be administered as soon as possible when bleeding occurs. In some countries (USA, Scandinavia), many patients with hemophilia give themselves intravenous injections of plasma concentrate as soon as they notice the slightest bleeding, even before contacting the nearest specialized medical center. Because it's hard to get enough factor VIII, then the last time runs active search for methods of its genetic engineering.

Another possibility is agents that directly stimulate the formation of factor VIII in the patient's body.

Named therapeutic possibilities ensure the safe conduct of minor (tooth extraction, etc.) and major surgical operations in people suffering from hemophilia. Orthopedic treatment is also important, since all kinds of damage to the bones or parts of the joints are very common. They should be warned.

In addition, proper physical and mental education is necessary so that hemophiliacs do not become groups of rejected people in society due to the fact that they cannot withstand everyday life.

Patients with hemophilia develop chronic arthropathy due to repetitive bleeding in the joint cavity. This is the most important complication of this hereditary disease. More often it affects one of the knees, sometimes both, and thus can significantly limit the patient's motor ability. In the future, these symptoms can definitely be improved by the systematic use of plasma concentrate, which will significantly reduce the manifestations of bleeding in the joint.

But even today, many patients with hemophilia suffer from the so-called hemophilic joint. For some unfortunate patients, the only way to cure their ailment is a synovectomy (removal of the synovial membrane of the joint, pathological change which, as a result of bleeding, becomes the main cause of hemophilic arthropathy. Some of the hemophiliacs after such an intervention were able to return to an almost normal life after immobility.

In childhood, a judicious choice of toys and activities can be an extremely important measure to prevent traumatic episodes. AT school age a patient with hemophilia can, without special exceptions, take part in the normal educational process. He should not be excluded from any of the activities of other children. It is very important that he does not feel inferior while suffering from his illness, so that he can later lead an independent lifestyle. Over the course of a lifetime, a hemophilic adapts to his disease. He knows what restrictions it imposes, takes them into account and plans his activities accordingly. Most often, patients with hemophilia have an intelligence above average.

Hemophilia in men

In medical practice, male hemophilia has no distinctive features. If the carrier of the altered gene is the mother, then the first signs of pathology can be diagnosed in early childhood. Boys have minor bleeding that occurs even with minor injuries. More serious hemorrhages are indicated by bruising, which can provoke the formation of serious pathologies, such as tissue necrosis.

If a man is ill with hemophilia, then before any surgical intervention, antihemophilic drugs must be administered to him, which help to avoid excessive blood loss.

The most serious hemorrhages are those that occur in the meninges. They can provoke severe forms CNS damage and even lead to lethal outcome. Also, in men, retroperitoneal bleeding is classified as complex, because they can become the basis for the occurrence of acute pathologies, which can only be eliminated surgically.

No less dangerous are bleeding that occurs in the larynx and throat from the mucous membranes. They can lead to severe attacks cough and tension of the vocal cords and as a result of obstruction respiratory tract.

When articular hemorrhages occur in men, pain appears, and there is an increase in temperature up to 38 degrees. Such deviations can cause osteoarthritis and muscle atrophy of the limbs.

Hemophilia in women

Hemophilia is rarely diagnosed in women. That is why the character and features are difficult to detect.

Cases of hemophilia in women are most often diagnosed if girls are born from a mother who is recognized as a carrier of the gene and a father suffering from this disease. As for the severity of the pathology, it fully corresponds to the degree of the deficient factor. In women, the following forms of pathology can be detected:

1. Severe - characterized by blood coagulability of less than 2%. Symptoms are most pronounced in childhood. The disease in this case can be manifested by systematic attacks of hemorrhages in the muscles, joints and internal organs. Bleeding gums can appear during the change or teething. During adulthood, the symptoms progress rapidly.
2. Moderate - the progression of the pathology occurs if the level of the factor varies from 2 to 5 percent. Then the symptomatology is moderate in severity and is manifested by joint-muscular hemorrhages, and the frequency of exacerbation is once every few months.
3. Light - the value of the scarce factor exceeds 5 percent. The first symptomatology manifests itself at school age as a result of surgery or injury. Bleeding is of low intensity and is expressed relatively infrequently. In the process of laboratory research, the disease may not be detected.
4. Erased - does not show any signs. A person in such a case may not be aware of the disease at all. It is found most often only after any surgical intervention.

In women, even when pathology is detected, it proceeds in a less severe form. The fact that the woman turned out to be a carrier of the gene and suffers from this disease is evidenced by the following signs:

• intense discharge during menstruation;
• nosebleeds;
• bleeding that occurs after dental interventions;
• blood clotting deficiency.

Hemophilia during pregnancy

Since hemophilia carries the possibility of significant blood loss, during the bearing of a child, the processes can be not only unexpected, but sometimes irreversible. A pregnant woman should definitely visit many specialists, such as an orthopedist, therapist, surgeon and geneticist. Childbirth should take place only in a specialized clinic under the close supervision of highly qualified specialists.

The tactics of delivery should be clearly defined already from the third trimester. In this case, all factors, such as the type of disease, the condition of the woman, must be taken into account. All nuances should be carefully thought out and the likelihood of severe blood loss should be minimized, and a favorable delivery should be ensured.

In addition to everything else, all possible ways The following risks must be excluded:

• death during ;
• the formation of cerebral hemorrhages during childbirth;
• the likelihood of vascular pathologies and penetration of infections;
• articular development pathological processes, which can be caused by tissue deformation;
• the likelihood of joint immobility.

O potential dangers little is currently known about the fetus, except that the woman may experience heavy bleeding.

As practice shows, if childbirth takes place in a normal mode, then in this case the likelihood of injuries and dangers is minimized, but there is always the possibility of exceptions, therefore, with hemophilia, all safety measures must be taken in advance, and only qualified doctors should give birth.

Complications

As a consequence of pathology or during therapy for hemophilia, certain complications may begin to develop in a person. Bleeding can lead to anemia varying degrees gravity. Deaths are not excluded, this applies mainly to women who are to have a caesarean section.

With the formation of a hematoma, gangrene may form or paralysis may develop. This occurs as a result of compression of blood vessels or nerves. Necrosis and osteoporosis are not excluded, which appear due to frequent hemorrhages in the bone tissue. Bleeding may cause airway obstruction. More not excluded severe complications such as hemorrhage, in the head or spinal cord, which leads to death.

Arthropathy is a complication of chronic hemophilia. It develops if bleeding occurs spontaneously and predominantly in one joint. Under the influence of blood components, inflammation of the synovial membrane occurs, which thickens over time, outgrowths are formed on it, penetrating into the articular cavity. In the process of joint mobility, outgrowths are infringed, which provokes new hemorrhages, but without injury. This leads to gradual tissue destruction. cartilage joint and exposure of the bone surface. In some cases, there is a possibility of developing renal amyloidosis with subsequent chronic kidney failure.

With this kind of disease, infection with viral hepatitis and HIV infections but thanks to modern conditions and the latest cleaning methods, the risk of infection is minimized.

In rare cases, a person may be provoked by a reaction immune system in the form of the production of antibodies that stop the ability to maintain blood clotting. In medical practice, this is expressed by the impossibility of stopping bleeding with the help of replacement therapy.

Forecast

As for the forecast, it will directly depend on how carefully a person will treat his health and follow all the recommendations of specialists.

The prognosis for severe hemophilia worsens significantly if a person has rapid bleeding, which is caused by trauma or surgery. Concerning mild degree hemophilia, then life expectancy remains the same and negative impact pathology does not affect the body.

Relatives of the patient must have an idea about the features of the disease and, if necessary, be able to provide first aid.

Prevention

The main method of preventing hemophilia is a consultation and a complete medical examination of couples immediately before marriage. In this case, a special gene diagnostics is carried out, the results of which reveal the probable risks of transmitting the pathology by inheritance. If couples have an ailment, then they are not recommended to plan the conception of children naturally.

If for some reason the diagnosis was not carried out before the onset of pregnancy, then it is advisable to organize the diagnosis after conception. Since subsequently, if hemophilia is detected in childhood, then therapeutic and preventive measures are appropriate.

Patients diagnosed with hemophilia should be under constant dispensary observation. In this case, they are registered in early childhood. When diagnosing a disease in a child, he is released from physical education, as there is a high risk of injury. But, despite all the restrictions, moderate physical activity must be present. They are necessary, especially for a growing organism for normal functioning. There are no special restrictions in nutrition. The baby must be vaccinated against the maximum number of infections, but vaccinations are given only subcutaneously and with extreme caution, since after intramuscular injection extensive hematomas may appear. The introduction of live vaccines is allowed only after the introduction of blood clotting factors, from the moment of which at least one and a half months have passed. It is necessary to systematically examine viral hepatitis and HIV infection.

In order to minimize the risk of complications, you should try to avoid excessive physical activity, various injuries, as well as undergo all the procedures recommended by the doctor and follow the regimens for taking medications. At viral diseases a patient with hemophilia is strictly forbidden to take Aspirin, as this drug helps to thin the blood and can cause bleeding. It is forbidden to take non-steroidal anti-inflammatory drugs such as Nurafen and Panadol. It is not yet recommended for a person to put cans, they can provoke bleeding in the lungs.

To prevent hemophilia, a person is given the missing blood factor at certain time intervals. In some cases, special venous catheters can even be installed, which minimize the risk of injury.

Video materials

Hemophilia: Discovery Channel - Diseases and Deaths of Kings

Hemophilia. How modern medicine beats it

Hemophilia is a serious disease with dangerous consequences. To avoid them, timely and qualified supervision and proper care are required. When this is ensured, a person with this diagnosis may well live a full life and practically do not differ from everyone else. Thanks to modern methods in the treatment of pathology, great success has been achieved and scientists are not going to stop there. Due to the actively developing gene therapy, it is not excluded that hemophilia will be defeated in the near future.

Manifestations of hemophilia have been described in the writings of physicians and medical historians of ancient times. In those distant centuries, doctors were faced with the problem of increased bleeding and death from it. 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 two dominant genes from his mother and father, then this trait 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 its 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. It is caused by insufficient content of 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. The danger is severe surgery 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 tissue accounts for about 20%, most often in the area 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.

Complications of bleeding from the kidney tissue can be:

• pain syndrome;
• renal colic (mechanical irritation of the urinary tract by a 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 by the following blood parameters:

• a decrease in the concentration (main symptom) and 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), prednisone.

Hemarthroses in combination with the above methods are supplemented by a puncture of the articular bag for aspiration (selection) of bloody contents, followed by the introduction 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 can be supplemented by 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.

Hemophilia is a disease characterized by blood incoagulability (this is how the word is translated from Greek). The disease is inherited. Bleeding and hemorrhage in this disease are long-term, sometimes they occur spontaneously, for no apparent reason.

Fatal "legacy"

Any mention of hemophilia is primarily associated with the image of Tsarevich Alexei - the son of the latter Russian emperor Nicholas II. Alexei was ill with 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, suffered from 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, consort of the King of Spain, passed on the disease 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 also had hemophilia, but one of them managed to live safely to 56 years of age.

Monarch parents, as best they could, tried to protect their children from any injuries. For example, the Spanish royal family dressed their two boys in padded suits; even the trees in the park, where children used to play, were wrapped in felt. Nicholas II and his family were also forced to take precautions, surrounding themselves with a narrow circle of people privy to the secret of the disease, and isolating themselves from the outside world with a high iron grate that encircled the palace park in Tsarskoye Selo. However, this could not save the prince from bruises and abrasions, and the parents simply despaired, realizing that they were constantly living on the verge 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 had two children who died from circumcision, then her third son is free from this circumcision - it doesn't matter if it comes from the same father or from another." And this is not surprising, because the religious rite of circumcision, so important for adherents of Orthodox Judaism, is associated with minor bleeding. Consequently, the Talmud recommended that children should not be exposed to such a risk, in whom a hereditary bleeding disorder could be suspected. Before late XIX century the reason for 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, then by hypertension, then by defects in the structure of red blood cells, or by the influence of the pituitary gland.

First pointed to true reason diseases in 1861, professor of Dorpat University Schmidt, having created an enzymatic theory of family bleeding. Later, his assumptions were confirmed: it turned out that in the blood plasma of patients there are not enough proteins that healthy people.

Why and how does blood coagulate?

It is known that blood clotting is defensive reaction organism. The blood released from the vessels should normally clot within 3-4 minutes. In this case, the blood from a liquid state passes into a jelly-like state. A clot is formed that clogs the damaged vessel and stops bleeding. In patients with hemophilia, this mechanism of thrombus formation is impaired. The main cells responsible for blood clotting are platelets. At break blood vessel the cells that line it from the inside are damaged. Under the lining lie long fibers of the main connective tissue protein, collagen, to which platelets are able to adhere. Strong attachment of platelets to the surface of the wound leads to several important implications. First, inside the attached platelet, a kind of ring of microtubules is compressed, as a result of which the shape of the cell changes and numerous outgrowths appear on its surface, which helps to fix 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 the platelets rushing to help, a biologically active substance, the hormone serotonin, begins to stand out. Under its influence, due to the contraction of smooth muscles, a vascular reaction begins - a local contraction of the lumen of the vessels (spasm). Finally, platelets adhering to the wound secrete a substance that stimulates the division of smooth muscle cells. It is also clear - the edges of the gap must be pulled together with the help of muscles.

If the capillary turned out to be damaged, often a bunch of platelets “piling up” on the site of damage 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 secrete a special substance - the contact factor, which triggers a whole cascade of interactions of 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 plasma protein belonging to the group of globulins, one of the blood coagulation factors. Under the action of the enzyme thrombin, it is able to turn into fibrin.

The resulting fibrin polymer filaments are stabilized by a special protein fibrinase. Thus, a real patch appears in the wound from densely intertwined fibrin filaments that 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 blood and lymphatic vessels) and smooth muscles close the gap in the vessel wall, 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 fibrinolysin enzyme. Under its influence, the fibrin thrombus begins to disintegrate and soon completely disappears.

Who gets hemophilia?

Hemophilia is passed from parents to children. But she has one interesting feature: only men suffer from hemophilia, and only women inherit it. For example, a sick father passes on hemophilia to a daughter who will not have external signs illness, but she will pass it on to her son, who will have hemophilia in full. However, those who think are mistaken: there was no such misfortune in the family - and never will be. 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. There are 6.5 thousand officially registered patients with hemophilia in Russia, but in fact, according to doctors, there may be 1.5-2 times more.

Severe hemophilia can usually present as early as the first year of life with extensive bruising and unusual long bleeding. Mild and moderate forms 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 will manifest itself in the worst case as a bruise, in a patient with hemophilia can have severe consequences. Under the skin, inside the skin, between the muscles, whole “lakes” of blood can form. And if the knee is bruised, blood can flow into the joint cavity, which leads to limitation and even complete loss of mobility, deformity, pain, so a person with hemophilia should be especially careful in everyday life.

Diagnostics

Early identification of a carrier of hemophilia is based primarily on the analysis of family history. family tree, measuring the ratio of coagulant activity of factors Blood VIII and IX, von Willebrand factor, as well as on DNA analysis. DNA diagnosis is the most accurate, but not always informative. Possible prenatal diagnosis when performing a chorionic villus biopsy at the 9-11th week of pregnancy or puncture of the fetal bladder 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 a presumed newborn who has been bled from a vein. Diagnosis of hemophilia B, or factor IX deficiency, is more difficult because any newborn has a low level of factor IX activity. Low level factor IX can be detected in a newborn up to 6 months of age, even if the child does not have hemophilia. Puncture of the arteries, jugular, femoral and cubital 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 are used to judge the state of the coagulation system.

Manifestations of the disease

Most often, the first manifestations of bleeding in patients with hemophilia develop at a time when the child begins to walk and is exposed to household injuries. For some, the first signs of hemophilia appear already in the neonatal 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 in human milk contains substances that for the time being do not allow the disease to manifest itself. In general, children with hemophilia are characterized by fragility, pale skin and poorly developed subcutaneous fat.

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

In sick children 1.5-2 years old, even minor injuries are accompanied by bruising on the forehead, limbs, buttocks, and teething, biting the tongue and mucous membrane of the cheeks, injections - prolonged, sometimes many days (up to 2-3 weeks) bleeding. Hemorrhages in the joints are often noted. Subcutaneous, intermuscular hematomas are extensive, tend to spread, resemble tumors in appearance, are accompanied by "flowering" (blue - blue-violet - brown - golden). They also dissolve for a very long time - 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 patient with hemophilia was small. Today, against the background of special treatment, a patient with hemophilia can live as long as a healthy man. Treatment of patients with hemophilia is carried out by a hematologist. Currently, a number of drugs are being produced that can restore blood clotting in patients with hemophilia. Most of these preparations are dried blood concentrates from healthy people. Treatment with factor concentrates helps to maintain the desired 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. At present, attempts are being made to establish the production of drugs against hemophilia by methods genetic engineering using stem cells.

Treatment of hemophilia also involves injecting the patient's deficient clotting factor directly into the patient's vein. Therapy can either prevent bleeding or reduce its consequences, try to prevent the development of complications. Bleeding stops when enough clotting factor reaches the injured site. If the treatment has been 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. Hemophilia treatment is currently available mainly to patients living in developed countries, where highly effective and virus-safe clotting factor concentrates are used. AT Russian Federation Currently, there is 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 a special department for outpatient care for patients with hemophilia, with round-the-clock field teams. If you need more information regarding available diagnostic options, please contact your nearest hemophilia treatment center or public organization patients with hemophilia, where there are relevant specialists. The concept of comprehensive care in hemophilia treatment centers is an art-field 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, physiotherapist, dentist, rehabilitation specialist, psychologist and genetics consultant. This state develops a coordinated care plan for the patient and expects this plan to be accepted by the pediatrician in the patient's community.

Hemophilia is considered one of the most expensive diseases in the world, since preparations 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 such drugs as ACETYLSALICYLIC ACID (ASPIRIN), BRufen, INDOMETACIN, butazolidines, ANALGIN are categorically contraindicated for them. Such drugs have the ability to thin the blood and further increase the likelihood of bleeding. For cuts and injuries, the patient with hemophilia needs immediate first aid, the wounds should be cleaned 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 blood serum of humans and animals. A bleeding wound should be well plugged, that is, closed, clamped. And of course, in such cases, you must immediately go to the hospital! The next stage of treatment is a blood transfusion. Small doses are usually sufficient to stop bleeding. With significant blood loss, the dose of transfused blood increases. Because intramuscular and subcutaneous injections form hematomas, patients with hemophilia drugs are administered intravenously.

If your child has hemophilia...

• Tell your doctor immediately if your child is injured, even if it is minor. Injuries to the head, neck or abdomen are especially dangerous. If your child is to surgery or a tooth extraction, talk to your doctor about what needs to be done.
• Watch your child closely for signs of extensive internal bleeding such as severe pain(including in the abdomen), swelling of a joint or muscle, limited movement in the joints, blood in the urine, tarry stools and severe headache.
• Since the child is given infusions of blood components, there is a risk of contracting hepatitis. The first signs of infection may appear between 3 weeks and 6 months after the child has received blood components. Disease symptoms: headache, fever, poor appetite, nausea, vomiting, abdominal pain and pain in the liver (in the hypochondrium and in the center of the abdomen, discoloration of urine darkening) and feces (light gray), yellowness of the skin and sclera.
• Never give your child ASPIRIN, as it can cause bleeding, and drugs such as BRUFEN, INDOMETACIN, butazolidines, ANALGIN. In any case, before giving your child a new drug, check with your doctor!
• If you have daughters, contact a specialized medical center to check if they are carriers of hemophilia. Sick male family members need psychological help.
• Make sure that the child always wears a medical identification bracelet - this is information about the disease and blood type, which can come in handy at any moment. It should be in such patients, so that in emergencies, any person who first assists such a patient can more easily navigate the situation. This information should be available to any patient with hemophilia.
• Teach your child to brush their teeth regularly and thoroughly with soft brushes. Avoid tooth extractions.
• Protect the child from injury, but do not practice unnecessary restrictions that would retard his development. Sew padded knee and elbow pads into his clothing to protect his joints in case of falls. Older children should not be allowed to play contact and traumatic sports (such as football), but they can, for example, swim or play golf.
• Apply cold compresses and ice to the site of the lesion, and lightly pressing bandages to the bleeding areas. To prevent bleeding from returning, restrict your child's movement for 48 hours after it has stopped. Give the injured part of the body an elevated position.
• To avoid frequent hospitalizations, you should learn how to administer blood components with a clotting factor. Do not hesitate to administer clotting factor concentrate if bleeding occurs. Keep the concentrate always ready, even on vacation.
• Make sure your child has regular check-ups with a hematologist.
• If bleeding starts, seek medical attention immediately!

Hemophilia is one of the most dangerous diseases. It still leads to high mortality. Therefore, the most important preventive measure- medical genetic counseling for those entering into marriage. When a patient with hemophilia is married to a woman with hemophilia, children are not recommended. In a healthy married woman

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

V. L. IZHEVSKAYA, Candidate of Medical Sciences

The English Queen Victoria did not suspect that she was a carrier of hemophilia until she gave birth to her eighth child - the son of Leopold.

With his birth, it became clear that the threat of a terrible, incurable disease at that time hung over the English royal house.

And not only over English: from here hemophilia gave its "metastases" to those houses where Victoria's children and grandchildren came.

This fate did not pass away and long-suffering Russia. The native granddaughter of Queen Alexandra Feodorovna became the wife of the Russian monarch Nicholas II. They had a son, Tsarevich Alexei, who suffered from a severe form of hemophilia.

The fact that hemophilia is a family hereditary disease has been known for a very, very long time. Even in the Talmud (2nd century AD), deadly bleeding in boys after the rite of circumcision is described.

And it is prescribed that all male relatives in the female line, who are subsequently born in such families, not be circumcised. Note: on the female line. Amazing! There was also no trace of any genetics, and they already knew that the disease was transmitted only through the mother, daughter, granddaughter ...

But what's the matter, how it happens, it was genetics in our century who were able to explain. It was far from easy to find genetic keys to hemophilia: everything is painfully twisted there.

See: only boys suffer from hemophilia. But at the same time their children - boys and girls - are always healthy. However, these seemingly perfectly healthy girls subsequently give birth to sick boys. Why?

The clue lay in the X chromosome. You may remember from previous articles on genetics that a woman has two identical sex chromosomes - XX, and men have different sex chromosomes - XY.

So at the very end long shoulder The X chromosomes locate the genes for two of the known thirteen clotting factors. They will be of interest to us: these are the VIII and IX factors.

Increased bleeding, that is, hemophilia, is caused by their deficiency in the body. When there is no factor VIII in the blood - antihemophilic globulin - hemophilia A develops. There is no factor IX - the plasma component of thromboblastin - hemophilia B.

But the question is: why are they not there, where does the shortage come from? The culprit is a mutation (see Genetic Misprints, Health, No. 7, 1991) of the genes responsible for the synthesis of these factors.

It happens that the gene VIU (IX) of the factor will fall out completely. In this case, antihemophilic globulin (or the plasma component of thromboblastin) is practically not produced: an extremely severe form of hemophilia develops.

There may be small errors in the genes, typos - then blood coagulation factors are produced, but they work poorly, their activity is reduced.

The form of the disease depends on how low it is compared to the norm, which ranges from 50 to 200% in the population. So, the number less than 50, the more acute and severe the manifestations of hemophilia.

Since the mutant hemophilia gene is localized only on the X chromosome and is passed on from generation to generation, the disease is said to be inherited in a sex-linked manner.

This localization of the gene explains a lot. It becomes clear why healthy children are born to a patient with hemophilia. He passes on the Y chromosome to his son, which does not and cannot contain the hemophilia gene. Therefore, all his sons will be healthy.

But the daughter will definitely receive an X chromosome with a mutant gene. But... From her mother, she will also receive the X chromosome and with it the normal gene VIII (IX) of the blood coagulation factor, which will ensure its sufficient synthesis.

And everything will be fine until the carrier of the hemophilia gene passes the defective X chromosome to her son. In this case, the boy will definitely get sick.

Hemophilia can be severe, moderate, or mild. As already mentioned, this depends on what kind of mutation the blood coagulation factor gene has undergone.

For a severe form of the disease, when 3% of the factor from the norm is produced, it is characteristic early manifestation bleeding. Hemophilia can make itself felt with profuse bleeding already during the birth of a child, circumcision of the umbilical cord. And later on teething.

In severe hemophiliacs, the most minor injury is accompanied by profuse - internal or external - hemorrhage. More often blood is shed in soft tissues, into the cavity of the joints.

As a rule, patients with severe or moderate form (5-10% of the factor from the norm) of hemophilia fall into the field of view of doctors. Those who have the activity of blood coagulation factors is 20-30%, can live safely all their lives and not even know that they suffer from a mild form of hemophilia.

I must say that hemophilia is characterized by one feature: if someone in the family has a severe form of hemophilia, then in the future we should expect the appearance of a severe form in the descendants. Similarly, with a mild form of the disease.

But hemophilia after a few generations can generally leave the family. Take a look at the tab in particular on the left branch of our hypothetical family.

As you can see, in the 6th generation both a healthy man and a patient with hemophilia have healthy sons. All! We can say that the disease is gone. True, it is not known whether forever or not.

Despite the fact that the factor VIII gene, mutations in which lead to hemophilia, in last decade managed to learn quite a lot, it remains unclear how and for what reasons a mutation occurs.

Now that he is known by sight, specialists hope to create more effective against hemophilia. effective methods treatments than those that physicians have in service today.

Although it must be said that replacement therapy If it is carried out correctly and systematically, it gives good results. What is so acutely lacking in the patient's body, what his own cells do not produce, is introduced into the patient's body - drugs containing clotting factors.

The main thing is to administer these drugs on time, to prevent exacerbations of the disease, to prevent possible hemorrhages in soft tissues, joints and related complications - hemarthroses, contractures.

But, perhaps, the most important thing is to prevent the birth of a sick child. These goals are prenatal diagnosis of sex and diseases of the fetus. If the fetus is a girl, no problem. A woman can safely give birth.

When the doctor sees that a boy is developing, he suggests terminating the pregnancy - the risk of having a sick child is too great. Although, according to the laws of genetics, only 50% of boys in the offspring of a carrier woman are at risk of getting the hemophilia gene. But this is theoretical.

Until recently, it was impossible to determine which chromosome a child received. And there was one way out - to terminate the pregnancy.

Not so long ago, thanks to the advances in genetics, molecular biology, and bioengineering, it became possible to see which X chromosome a boy inherited from his mother - normal or with a mutant gene.

This diagnosis is carried out on early dates pregnancy (8-10 weeks) along the fetal membrane of the fetus - the chorion. A so-called chorion biopsy is done, and then a chromosomal and molecular analysis of the cells of the fetal membrane is performed.

These cells are identical to the cells of the fetus, and from them experts can judge who is developing - a boy or a girl. And also what chromosome the boy inherited from his mother. If normal - hemophilia does not threaten him, there is no need to terminate the pregnancy.

I foresee readers' questions and I want to say right away: so far this method has not been widely used in our country. Women from the high-risk group can undergo such an examination in Moscow at the All-Union Scientific Medical Genetic Center of the USSR Academy of Medical Sciences, at the All-Union Hematological Research Center, at the All-Union Research Center for Maternal and Child Health.

Such an examination is also carried out in St. Petersburg, at the Institute of Obstetrics and Gynecology of the USSR Academy of Medical Sciences.

And remember: the survey takes time. Therefore, it is necessary to seek advice when you are planning a child, and not in late pregnancy.

The diagram shows a family where in the first generation a patient with hemophilia (blue figure) marries a healthy woman (pink figure). They give birth to children (II generation): a healthy son (pink figurine) and a hemophilia carrier daughter (blue-pink figurine), who received a defective X chromosome from her father.

This daughter gives birth to a sick son, a healthy daughter and a carrier daughter (III generation).

Now look at the left branch coming from the hemophiliac son. As you can see, everything ends happily here: in the 6th generation, the disease leaves this family - two healthy sons are born.

In the right branch, which starts from the carrier daughter (III generation), hemophilia remains in the family: a representative of the VII generation suffers from it.

Nobody is safe

“I always believed that hemophilia is a male disease, and women are insured against it. Isn't that right?"

Indeed, hemophilia affects men more often, and there are good reasons for this. genetic causes. But medicine knows cases when women also get sick. Fortunately, it's extremely rare.

Indeed, in order to get hemophilia, a girl must receive two X chromosomes with mutant genes. This situation is possible if a patient with hemophilia marries a carrier woman. Their daughter receives two defective X chromosomes, one from her father and one from her mother, and inevitably develops hemophilia.

No matter how blind love is, the probability that a hemophiliac and a carrier of a mutant gene will meet and fall in love with each other is incredibly small.

However, it increases sharply if the patient marries his relative (no matter if distant or close) on the maternal side.

In this case, it is necessary, as they say, to measure a hundred times. And be sure (even before the wedding!) to visit a medical genetic consultation.

V. L. KRAVCHENKO, doctor