Hemophilia description. Hemophilia - hemophilia A, hemophilia B

Hemophilia - severe hereditary disease characterized by bleeding disorders. The name of the disease comes from the Greek words "blood" and "love". Its main symptom is frequent bleeding which are very difficult to stop. The hemophilia gene is linked (“linked”) to the sex chromosomes, with which it is transmitted. In history, cases of hemophilia in men of the royal family are known, the most famous patient is the son of Tsar Nicholas II and Tsarina Alexandra - Tsarevich Alexei.

Causes of hemophilia and the mechanism of inheritance

Hemophilia predominantly affects men. Women rarely get sick and only when the mother is a carrier of the gene and the father has hemophilia. Basically, they only pass on the abnormal chromosome to their children. If a girl is born to such a woman, she will also become a carrier of a pathological gene, while a son may be born already sick.

Queen Victoria of England (1819-1901) was a well-known carrier of the hemophilia gene. She passed the disease on to her children Alice and Leopold. Princess Alice, in turn, gave birth to Alix of Hesse-Darmstadt, the future Russian Empress Alexandra Feodorovna. The son of Tsar Nicholas II and Princess Alix Alexei was ill with hemophilia.

Family tree of Queen Victoria with information about carriers of the hemophilia gene and cases

The mechanism of transmission of the disease depends on who is the carrier of the abnormal chromosome - a man or a woman. Each male cage contains two types of chromosomes - X and Y. In female cells, there are two X chromosomes, one of which may be abnormal. This gives a 50% chance that a woman will pass it on to her children.

At married couple, in which the husband has hemophilia, and the wife is not a carrier of the pathological gene, the sons are born healthy, since they receive a healthy X-chromosome from the mother and only the Y-chromosome from the father. While the daughters who appeared in such a marriage inherit the diseased X-chromosome from the father and the healthy one from the mother. As a result, they become regular conductors (carriers) of the abnormal gene.

Hemophilia can be inherited from grandfather to grandson through a mother with an abnormal chromosome or rare cases occur spontaneously (sporadic gene mutation) in some diseases. History does not provide data on how Queen Victoria inherited the disease; evidence that her father was not actually Edward, Prince of Kent, has not been found. Thus, we can assume that in this case, hemophilia, from which Tsarevich Alexei later suffered, arose spontaneously.

In any case, once manifested in the family, hemophilia will continue to be inherited, as happened in royal family. Because of this, the disease has several alternative figurative names: "royal disease", "kings' disease". At the beginning of the 20th century, medicine was not as developed as it is today, so a patient with hemophilia literally walked on a knife edge. Any, even minor bleeding could have cost the boy his life. But with certain precautions, a person could live almost the same as a healthy one. For example, Waldemar, the great-grandson of Queen Victoria, lived with this rare disease for 56 years.

Classification of hemophilia

In the mechanism of blood coagulation in a healthy person, 12 factors are involved: 12 proteins, which are indicated by Latin numerals from I to XII. The absence or decrease in the level of one of them in the blood leads to a violation of blood clotting.

Previously, there were three types of hereditary hemophilia:

• hemophilia A (classic - lack of Factor VIII- antihemophilic globulin);
• hemophilia B (Christmas disease - deficiency of factor IX - plasma thromboplastin);
• hemophilia C (a very rare form - lack of factor XI component - a precursor of blood plasma thromboplastin).

Due to the fact that the symptoms of hemophilia C and the mode of inheritance differ significantly from the first two types, it was excluded from the classification and attributed to rare coagulopathy: a group of diseases with bleeding disorders caused by various causes.

According to the severity of hemophilia can be divided into three forms:

• mild - bleeding occurs only when surgical operations or as a result of an injury;
• medium - symptoms of the disease (extensive hematomas and bleeding after injuries) occur at an early age;
• severe - the disease makes itself felt from the first days of a child's life.

Symptoms of hemophilia

In hemophilia, the blood loses its ability to clot.

Manifestations of hemophilia can occur in a child of any age. Even in children of the first days of life - in the form of a generic cephalohematoma, bleeding from the umbilical cord or subcutaneous and intradermal hematomas. In children under one year old, bleeding may occur with.

But most often, the symptoms of the disease in the first months of life are almost invisible due to the fact that mother's milk contains substances that support normal blood clotting in the baby.

In most cases, signs of hemophilia appear after a year, when the child learns to walk, and the first injuries inevitably occur. At this time you can see initial symptoms hemophilia:

• the appearance after the fall of extensive and painful hematomas, which are poorly absorbed;
• prolonged bleeding that does not correspond to the severity of the injury: for example, they can be provoked by cuts, abrasions or small medical procedures, such as drawing blood from a finger or injections;
• bleeding from the gums during teething or tooth extraction;
• nosebleeds, often appearing for no apparent reason.

Over time, the child develops new symptoms:

• digestive problems;
• increase in body temperature without visible reasons;
• blood in urine and feces;
• hemarthrosis (bleeding into the joints) of large joints: hip, knee, elbow, shoulder. They are accompanied by pain, swelling, fever and limited joint mobility. At primary lesion these phenomena disappear completely after some time, but with repeated hemorrhages, the joint may gradually deform.

Often severe bleeding do not begin immediately after the injury, but after 6-12 hours. This is due to the fact that at the time of injury, the incipient bleeding is stopped by platelets, which are present in the blood in unchanged quantities even in cases of hemophilia.

Complications of hemophilia

As a result of bleeding, a number of complications may appear:

• paralysis, gangrene (due to compression of nerve endings and large vessels by an extensive hematoma);
• severe (due to heavy bleeding as a result of trauma or surgery);
• acute respiratory failure(due to mechanical obstruction respiratory tract resulting from bleeding from the mucous membrane of the larynx);
• severe lesions nervous system and even death(due to hemorrhages in the brain and spinal cord, as well as in meninges);
• (decrease in the number of platelets);
• aseptic tissue necrosis and bone decalcification () due to frequent hemorrhages V bone tissue.

It is erroneously believed that the patient can die from external bleeding. This is possible in rare cases. The most life-threatening are internal bleeding resulting from injuries.

The earlier a disease is diagnosed in a child and treatment is started, the less often complications occur.

Diagnosis of hemophilia

Diagnosis of the disease is carried out in three stages:

• collection of anamnesis: information about the manifestation similar symptoms in the family and mother's complaints about the child's condition;
• laboratory blood tests, where the leading indicator is an increased clotting time, as well as a plasma sample in which the level of at least one clotting factor is absent or reduced;
• clinical symptoms of the disease.

When making a diagnosis, the doctor needs to conduct a differential diagnosis with thrombocytopenic purpura, von Willebrand's disease and Glanzmann's thrombasthenia.

Treatment of hemophilia

Hemophilia is a disease that accompanies a child for life. It is impossible to completely get rid of it. Treatment is to stop the bleeding that has arisen and eliminate their consequences.

The method of treatment of the disease directly depends on the type of hemophilia. Patients receive the missing component of blood clotting through intravenous injections.

Before starting treatment, the child should be examined by specialists: a pediatrician, a hematologist, a dentist, an orthopedist and a psychologist. Together they will make individual scheme treatment course taking into account the type of hemophilia and the severity of the process.

For hemophilia type A, replacement therapy is prescribed. The missing factor VIII is introduced into the blood by infusing the child with freshly prepared citrated blood or direct blood transfusion (one of the relatives must be a donor). Canned blood for transfusion is not suitable in this case, because. the necessary globulin is destroyed during long-term storage.

In the treatment of type A hemophilia, antihemophilic globulin, antihemophilic plasma and cryoprecipitate - antihemophilic globulin prepared from fresh frozen human blood are also used. Introduced in a stream, these drugs exhibit an excellent hemostatic (hemostatic) effect.

In the treatment of hemophilia B, banked blood is allowed because factors IX and XI are not destroyed by storage.

During an exacerbation of the disease, the child needs strict bed rest until his condition stabilizes.

In cases of minor external bleeding, it is recommended to use a hemostatic sponge, fibrin film, and even human milk, which is rich in thromboplastin.

With hemarthrosis, the doctor prescribes a consultation with an orthopedic surgeon. The main treatment is aimed at complete immobilization of the joint for 2-3 days, applying cold. With massive hemorrhage, a joint puncture and the introduction of hydrocortisone are performed. A few days later, a light massage of the muscles of the damaged limb is prescribed, carefully begin to exercise. physical therapy and physiotherapy procedures. And only in extreme cases, surgical treatment of the joint is indicated.

Prevention of hemophilia

For the purpose of treatment and prevention of hemophilia, the introduction of a missing clotting factor or other blood products into the body of a sick child is used.

Although the disease is considered incurable, medicine can keep a child with hemophilia in good health.

The first step is to prevent bleeding. This is achieved by the timely infusion of the missing clotting factor, which prevents hemorrhages in the muscles and joints.

All children must be registered with a pediatrician and have a document indicating the type of hemophilia, the method of its treatment and the result.

Parents should know how to properly care for a child so that he does not feel uncomfortable at home and among his peers. They also need to be able to provide assistance when needed.

With hemophilia, it is necessary to enrich the child's food with vitamins, as well as calcium and phosphorus salts.

(haemophilia) - hereditary pathology from the group of coagulopathy, leading to a violation of the synthesis of VIII, IX or XI factors responsible for blood clotting, ending in its insufficiency. The disease is characterized by an increased tendency to both spontaneous and cause hemorrhages: intraperitoneal and intramuscular hematomas, intraarticular (hemarthrosis), bleeding of the digestive tract, inability to coagulate blood with various even minor injuries skin.

The disease is relevant in pediatrics, as it is detected in children younger age usually in the first year of a baby's life.

The history of the appearance of hemophilia goes deep into antiquity. In those days, it was widespread in society, especially in the royal families of both Europe and Russia. Entire dynasties of crowned males suffered from hemophilia. This is where the terms " crowned hemophilia" And " royal disease».

Examples are well known - Queen Victoria of England suffered from hemophilia, who passed it on to her descendants. Her great-great-grandson was the Russian Tsarevich Alexei Nikolaevich, the son of Emperor Nicholas II, who inherited " royal disease».

Etiology and genetics

The causes of the disease are associated with mutations in the gene that is linked to the X chromosome. As a result, there is no antihemophilic globulin and there is a deficiency of a number of other plasma factors that are part of active thromboplastin.

Hemophilia has a recessive type of inheritance, that is, it is transmitted through the female line, but only men get sick with it. Women also have a damaged gene, but they do not get sick, but act only as its carrier, passing on the pathology to their sons.

The appearance of healthy or diseased offspring depends on the genotype of the parents. If the husband is healthy in marriage, and the wife is a carrier, then they have a 50/50 chance of having both healthy and hemophiliac sons. And daughters have a 50% chance of getting the defective gene. In a man suffering from a disease and having a genotype with a mutated gene, and a healthy woman, daughters carrying the gene and completely healthy sons are born. Girls with congenital hemophilia may come from a carrier mother and an affected father. Such cases are very rare, but still occur.

Hereditary hemophilia is detected in 70% of cases from total number of patients, the remaining 30% account for the detection of sporadic forms of the disease associated with a mutation in the locus. Subsequently, such a spontaneous form becomes hereditary.

Classification

ICD-10 hemophilia code - D 66.0, D67.0, D68.1

Types of hemophilia differ depending on the lack of one or another factor contributing to hemostasis:

Hemophilia type A(classic). It is characterized by a recessive mutation of the F8 gene on the X chromosome. This is the most common type of disease, occurring in 85% of patients, characterized by congenital deficiency of antihemophilic globulin, leading to a failure in the formation of active thrombokinase.

Christmas sickness or hemophilia type B is associated with deficiency of factor IX, otherwise called the Christmas factor, the plasma component of thromboplastin, which is also involved in the formation of thrombokinase. This type of disease is detected in no more than 13% of patients.

Rosenthal disease or hemophilia type C(acquired) is distinguished by an autosomal recessive or dominant type of inheritance. In this type, factor XI is defective. It is diagnosed only in 1-2% of the total number of patients.

Concomitant hemophilia- a very rare form with a simultaneous lack of VIII and IX factors.

Hemophilia types A and B are found exclusively in men, type C - in both sexes.

Other varieties, such as hypoproconvertinemia, are very rare, accounting for no more than 0.5% of all patients with hemophilia.

Clinical manifestations

The severity of the clinical course does not depend on the type of disease, but is determined by the level of the deficient antihemophilic factor. There are several forms:

Easy, characterized by the factor level from 5 to 15%. The debut of the disease usually falls on school years, in rare cases after 20 years, and is associated with surgery or injuries. Bleeding is rare and non-intense.

Medium. With a concentration of antihemophilic factor up to 6% of the norm. Appears in before school age in the form of a moderate hemorrhagic syndrome aggravated up to 3 times a year.

heavy exhibited at a concentration of the missing factor up to 3% of the norm. Accompanied by severe hemorrhagic syndrome from early childhood. A newborn baby has prolonged bleeding from the umbilical cord, melena, cephalohematoma. With the development of the child - post-traumatic or spontaneous hemorrhages in the muscles, internal organs, joints. There may be long-term bleeding from eruption or change of milk teeth.

Hidden (latent) form. With a factor indicator exceeding 15% of the norm.

subclinical. The antihemophilic factor does not decrease below 16–35%.

In young children, bleeding can occur from biting the lips, cheeks, tongue. After transferred infections(chickenpox, influenza, SARS, measles), exacerbations of hemorrhagic diathesis are possible. Due to frequent and prolonged bleeding, thrombocytopenia and anemia of various types and severity are detected.

Characteristic signs of hemophilia:

Hemarthroses - heavy bleeding into the joints. According to the purity of hemorrhages, they account for 70 to 80%. The ankles, elbows, knees are most often affected, less often the hips, shoulders and small joints fingers and toes. After the first hemorrhages in the synovial capsules, the blood gradually resolves without any complications, the function of the joint is fully restored. Repeated bleeding leads to incomplete resorption, the formation of fibrinous clots deposited in the joint capsule and cartilage with their gradual germination connective tissue. It is manifested by severe pain and limitation of movement in the joint. Recurrent hemarthroses cause obliteration, ankylosis of the joints, hemophilic osteoarthritis and chronic synovitis.

Bleeding into the bone tissue ends with bone decalcification and aseptic necrosis.

Hemorrhages in muscles and subcutaneous tissue(from 10 to 20%). Blood spilled into muscles or intermuscular spaces for a long time does not fold, so it easily penetrates into the fascia and nearby tissues. Clinic of subcutaneous and intramuscular hematomas - poorly absorbed bruises different sizes. As complications, gangrene or paralysis is possible, appearing as a result of compression of large arteries or peripheral nerve trunks by volumetric hematomas. This is accompanied by severe pain syndrome.

Statistics
On the territory of Russia there are about 15 thousand men with hemophilia, of which about 6 thousand are children. In the world, more than 400 thousand people live with this disease.

Prolonged bleeding from the mucous gums, nose, mouth, different parts of the stomach or intestines, as well as from the kidneys. The frequency of occurrence is up to 8% of the total number of all bleeding. Any medical manipulations or operations, whether it be tooth extraction, tonsillectomy, intramuscular injection or vaccination, end in profuse and prolonged bleeding. Extremely dangerous bleeding from the mucous membrane of the larynx and pharynx, as this can result in airway obstruction.

Hemorrhages in different departments brain and meninges lead to disorders of the nervous system and the corresponding symptoms, often ending in the death of the patient.

Hematuria spontaneous or due to trauma lumbar. Found in 15-20% of cases. Symptoms and disorders preceding it - urination disorders, pyelonephritis, hydronephrosis, pyeloectasia. Patients pay attention to the appearance of blood in the urine.

Hemorrhagic syndrome is characterized by delayed onset of bleeding. Depending on the intensity of the injury, it may occur after 6-12 hours or later.

Acquired hemophilia is accompanied by a violation of color perception (color blindness). Found in childhood rarely, only with myeloproliferative and autoimmune diseases, when antibodies to factors begin to be produced. Only in 40% of patients it is possible to identify the causes of acquired hemophilia, these include pregnancy, autoimmune diseases, taking certain medications, malignant neoplasms.

If the above manifestations appear, a person should contact a specialized center for the treatment of hemophilia, where he will be prescribed an examination and, if necessary, treatment.

Diagnostics

At the stage of pregnancy planning, future parents can undergo medical genetic counseling with molecular genetic testing and collection of genealogical data.

Perinatal diagnosis consists of amniocentesis or chorin biopsy followed by a DNA study of the obtained cellular material.

The diagnosis is established after a detailed examination and differential diagnosis patient.

Mandatory physical examination with examination, auscultation, palpation, collection of family history to identify possible inheritance.

Laboratory studies of hemostasis:

Coagulogram;
- quantitative determination of factors IX and VIII;
- definition of INR - international normalized ratio;
- a blood test to calculate the amount of fibrinogen;
- thromboelastography;
- thrombodynamics;
- prothrombin index;
- calculation of APTT (activated partial thromboplastin time).

The appearance of hemarthrosis in humans requires radiography of the affected joint, and hematuria - additional research urine and kidney function. Ultrasound diagnostics performed with retroperitoneal hemorrhages and hematomas in the fascia internal organs. If cerebral hemorrhage is suspected, CT or MRI is mandatory.

Differential diagnosis is carried out with Glanzmann's thrombasthenia, thrombocytopenic purpura, von Willebrand's disease, and thrombocytopathy.

Treatment

The disease is incurable, but amenable to hemostatic replacement therapy with concentrates of missing factors. The dose of the concentrate is selected depending on the degree of its deficiency, the severity of hemophilia, the type and severity of bleeding.

It is important to start treatment at the first bleeding. This helps to avoid many complications that require already surgical intervention.

Treatment consists of two components - permanent supportive or prophylactic and immediate, with manifestations of hemorrhagic syndrome. Supportive care consists of intermittent self-care intravenous administration antihemophilic factor concentrate. The task of doctors is to prevent the occurrence of arthropathy and bleeding in various parts of the body. In severe hemophilia, the frequency of administration reaches 2-3 times a week with preventive treatment and up to 2 times a day with the main.

The basis of treatment is antihemophilic drugs, blood transfusions and its components.

Hemostatic therapy for hemophilia type A involves the use of cryoprecipitate, an antihemophilic globulin concentrate made from fresh frozen human plasma.
Hemophilia type B is treated with IV PPSB – complex drug, which includes several factors, including prothrombin, proconvertin, and the plasma thromboplastin component. In addition, fresh frozen donor plasma is administered.
For hemophilia type C, fresh frozen dry plasma is used.

Symptomatic treatment consists of the appointment of glucocorticoids, angioprotectors. Complemented by physiotherapy. First aid for external bleeding includes local application of a hemostatic sponge, treatment of the wound with thrombin, and the application of a temporary pressure bandage.

As a result of intensive replacement transfusion therapy, an inhibitory form of hemophilia occurs, characterized by the appearance of inhibitors to clotting factors that neutralize the antihemophilic factor administered to the patient, leading to the futility of treatment. The situation is saved by plasmapheresis and the appointment of immunosuppressants.

In case of hemorrhage in the joint, rest is recommended for 3-5 days, non-steroidal anti-inflammatory drugs in tablets and glucocorticoids locally. Surgery shown at irreversible damage joint function, its destruction.

Alternative Treatment

In addition to medical treatment, patients can be treated with traditional medicine. Prevention of bleeding can be carried out with the help of herbs that have an astringent property that helps strengthen the walls of blood vessels. These include yarrow, grape seed extract, blueberries, stinging nettle.

To improve blood clotting, take the following medicinal plants: arnica, coriander, astragalus, dandelion root, Japanese Sophora fruit and others.

Complications

Complications are divided into groups.

associated with hemorrhages:

a) intestinal obstruction or compression of the ureters by extensive hematomas;
b) deformities of the musculoskeletal system - muscle wasting, cartilage usuration, curvature of the pelvis, or spinal column as a complication of hemophilic osteoarthritis;
c) infection with hematomas;
d) airway obstruction.

Connected with immune system - the appearance of inhibitors of factors that impede treatment.

They are more at risk of contracting HIV infection, herpetic and cytomegalovirus infection and viral hepatitis.

Prevention

There is no specific prevention. Only possible drug prophylaxis to prevent bleeding. When getting married and planning a pregnancy, it is important to go through medical genetic counseling at all necessary examination .

Forecast

At mild form the prognosis is favorable. When severe, it worsens significantly. In general, it depends on the type, severity, timeliness of treatment and its effectiveness. The patient is registered, given disability.

How many live at different types hemophilia? Light form does not affect the life expectancy of the patient. Effective and permanent treatment for moderate and severe forms helps the patient live as long as healthy people live. Death occurs in most cases after hemorrhages in the brain.

Hemophilia is a group genetic diseases inherited, in which blood clotting is impaired. In humans, the gene that causes hemophilia is located on the X chromosomes, which are responsible for the sex of a person.

Normally, this gene is responsible for the synthesis of special proteins - blood coagulation factors. In hemophilia type A, a gene mutation results in decreased levels of clotting factor VIII in the body. In hemophilia type B, the level of factor IX is reduced.

Patients with hemophilia, due to a lack of clotting factors, suffer from increased bleeding with abrasions, cuts, and injections. There is a high probability of spontaneous hemorrhages in organs and tissues without obvious reasons. There are hemorrhages in the joints during normal, everyday physical activity. If hemorrhage occurs in a vital organ, a fatal outcome is possible.

Contrary to popular myth, people with hemophilia cannot die from a simple cut. genetic defect affects only inner path blood clotting. outer path, activated by other factors, helps stop bleeding from small cuts and abrasions.

The problem is that with extensive trauma or surgery, both external and internal clotting pathways are needed to successfully stop bleeding.

How is hemophilia transmitted?

Hereditary diseases are passed from parents to children. Since the mutation is located on the sex X chromosomes, whether a person will have hemophilia or not depends on gender.

As a rule, women do not get hemophilia. In rare cases, a new mutation is possible; in this case, a person with hemophilia never had sick relatives.

The myth that only royal people suffer from hemophilia did not arise out of nowhere. Queen Victoria of the United Kingdom of Great Britain was a carrier of the hemophilia gene and passed it on to her children. Since in those days royal persons could only marry their equals, this soon led to the fact that hemophilia spread throughout the families of the ruling dynasties throughout Europe.

How is hemophilia inherited?

In medicine, hereditary genetic diseases associated with sex are called X-linked. Hemophilia is a recessive trait, for the manifestation of the disease it is necessary:
1. Get 2 XX chromosomes from parents, each of which has a gene with a defect. Since women carry 2 XX chromosomes, this explains the rarity of the disease in them. If a woman has 1 defective gene and 1 normal one, the disease will not manifest itself, since the information for encoding the protein, the clotting factor, will be "read" from a normal source. The defective gene will be carried in the family, the woman is a carrier of hemophilia.

2. Get from the father or mother one X chromosome, in which there will be a defective gene. In this case, the girls in this family will either be carriers of hemophilia or will be completely healthy. Men do not have a second X chromosome, so the disease will either manifest itself, or the child will be lucky and he will be absolutely healthy and will not be a carrier.
To determine the probability of having a healthy child, it is necessary to conduct genetic research.

Another myth is that people with hemophilia don't live long. Before 1960s average duration the life of a patient with hemophilia was 10-11 years. Currently, subject to adequate treatment, patients with hemophilia have almost normal life, with a few caveats. Since the 1980s, HIV and AIDS have moved to the first and second places as causes of death for patients with hemophilia. Infection occurs during treatment with whole blood preparations taken from sick people.
In 3rd place - cirrhosis of the liver caused by transmission viral hepatitis the same way.

Treatment is based on replacement of missing clotting factors derived from donated blood, blood of animals synthesized by genetic engineering methods. In developed countries, preference is given to last method, as the most effective and safe.
The big disadvantage is high price treatment with recombinant factors, ie. obtained through genetic engineering.

Great importance It has social support and adaptation of patients with hemophilia. Various international and regional organizations such as the International Federation of Hemophilia or All-Russian Society Hemophilia. They conduct trainings and seminars for families with a sick child. They also provide legal and informational support.
The All-Russian Society of Hemophilia has regional branches.

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

General information

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

Causes of hemophilia

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

At healthy man and female conductors are equally likely to have both sick and healthy sons. From the marriage of a man with hemophilia healthy woman healthy sons or daughters-conductors are born. Described isolated cases hemophilia in girls born to a carrier mother and a father with hemophilia.

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

Blood clotting, or hemostasis, is the most important defensive reaction organism. Activation of the hemostasis system occurs in case of damage to blood vessels and the onset of bleeding. Blood clotting is provided by platelets and special substances - plasma factors. With a deficiency of one or another coagulation factor, timely and adequate hemostasis becomes impossible. In hemophilia, due to a deficiency of VIII, IX or other factors, the first phase of blood coagulation is disturbed - the formation of thromboplastin. This increases the time of blood clotting; sometimes the bleeding does not stop for several hours.

Classification of hemophilia

Depending on the deficiency of one or another blood coagulation factor, there are hemophilia A (classic), B (Christmas disease), C, etc.

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

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

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

Symptoms of hemophilia

In newborns, signs of hemophilia can be prolonged bleeding from the stump of the umbilical cord, subcutaneous hematomas, cephalohematomas. Bleeding in children of the first year of life may be associated with teething, surgical interventions (incision of the frenulum of the tongue, circumcision). The sharp edges of milk teeth can cause biting of the tongue, lips, cheeks and bleeding from the mucous membranes of the oral cavity. However, in infancy hemophilia rarely debuts due to the fact that mother's milk contained enough active thrombokinase.

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

According to the degree of decrease in the frequency of hemorrhage in hemophilia are distributed in the following way: hemarthroses (70-80%), hematomas (10-20%), hematuria (14-20%), gastrointestinal bleeding (8%), hemorrhages in the central nervous system (5%).

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

Haemophilia often causes bleeding in soft tissues- subcutaneous tissue and muscles. In children, persistent bruises on the trunk and limbs are found, and deep intermuscular hematomas often occur. Such hematomas tend to spread, since the outflowing blood does not clot and, penetrating along the fascia, infiltrates the tissues. Extensive and intense hematomas can compress large arteries and peripheral nerve trunks, causing intense pain, paralysis, muscle atrophy, or gangrene.

Quite often, with hemophilia, bleeding occurs from the gums, nose, kidneys, and gastrointestinal organs. Bleeding can be initiated by any medical manipulations (intramuscular injection, tooth extraction, tonsillectomy, etc.). Extremely dangerous for a child with hemophilia are bleeding from the throat and nasopharynx, as they can lead to airway obstruction and require an emergency tracheostomy. Hemorrhages in the meninges and brain lead to severe CNS damage or death.

Hematuria in hemophilia can occur spontaneously or as a result of trauma to the lumbar region. At the same time, dysuric phenomena are noted, with the formation of blood clots in the urinary tract - attacks of renal colic. In patients with hemophilia, pyeloectasia, hydronephrosis, pyelonephritis are often found.

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

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

Diagnosis of hemophilia

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

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

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

With hemarthrosis, a child with hemophilia undergoes an X-ray of the joints; at internal bleeding and retroperitoneal hematomas - ultrasound of the abdominal cavity and retroperitoneal space; with hematuria - a general analysis of urine and ultrasound of the kidneys, etc.

Treatment of hemophilia

With hemophilia, complete elimination of the disease is impossible, therefore, the basis of treatment is hemostatic replacement therapy with concentrates of VIII and IX blood coagulation factors. Required dose concentrate is determined by the severity of hemophilia, the severity and type of bleeding.

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

For minor external bleeding (cuts, bleeding from the nose and mouth) can be used hemostatic sponge, applying a pressure bandage, treating the wound with thrombin. With uncomplicated hemorrhage, the child needs complete rest, cold, immobilization of the diseased joint with a plaster splint, in the future - UHF, electrophoresis, exercise therapy, light massage. Patients with hemophilia are recommended a diet enriched with vitamins A, B, C, D, calcium and phosphorus salts.

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

Hemophilia is a hereditary disease associated with a violation of blood clotting, resulting in prolonged hemorrhages. Bleeding occurs for no apparent reason, and they can not be stopped for a long time.

Hemophilia in men and women can lead to the death of the patient as a result of hemorrhage in the vital important organs, for example, to the brain, even with a minor injury. Patients with severe hemophilia become disabled due to the occurrence of frequent hemorrhages in muscle tissues and joints.

Hemophilia was recorded in the Talmud as early as the 2nd century BC, at which time there were described cases of the death of boys who were ritually circumcised.

Causes of hemophilia are associated with a change in one of the genes on the chromosome

The causes of hemophilia are associated with a change in one of the genes on the chromosome. Hemophilia is inherited from generation to generation. Hemophilia is inherited through the maternal line, i.e. female body is a carrier of a defective gene, while hemophilia is manifested mainly in men. There are described medical case indicating that the disease also occurs among women. Hemophilia is extremely rare in women. Hemophilia in women develops if both parents are carriers of the altered gene.

The female carrier transmits diseases to children, while she herself remains healthy. The sons of such a woman will suffer from hemophilia, and the daughters will be carriers of the disease. In order to break this chain, geneticists recommend carefully planning the birth of future children. Geneticists advise to act rather harshly: female carriers of the gene should not give birth at all, and if a man in the family has hemophilia, then sons should be born, and if a girl is conceived, it is necessary to artificially terminate the pregnancy. This is a very tough measure, but it is forced, because to date, scientists have not yet been able to eliminate the cause of the disease at the genetic level.

The nature and duration of bleeding in case of tissue damage in a patient with hemophilia is very different from bleeding that occurs in healthy people

The following symptoms of hemophilia are distinguished:

• increased bleeding;
• subcutaneous, subfascial, and intermuscular hematomas;
• hemarthrosis of large joints;
• severe post-traumatic bleeding.

The nature and duration of bleeding in case of tissue damage in a patient with hemophilia is very different from bleeding that occurs in healthy people. Even a regular injection can cause the wound to bleed for several weeks and form a subcutaneous hematoma.

A common symptom of hemophilia is profuse nose bleed which is very difficult to stop. With hemophilia, the patient may have blood in the urine.

Newborns with hemophilia develop large hematomas on the head during childbirth

In newborns with hemophilia, large bruises form on the head during childbirth. Then hemophilia in children is manifested by the occurrence of bleeding from the umbilical cord and during the eruption of the first teeth.

Most often, parents learn that a child has hemophilia when he begins to walk, because during this period children are most often injured.

Hemophilia in children can be accompanied by hemorrhages of internal organs and damage to large joints. If the joint bleeds twice, then this can cause its deformation.

If you notice signs of hemophilia in your child, you should immediately consult a doctor. Parents should carefully monitor that their child with this disease is less injured, but in no case should the child be limited in communication with peers. When the child grows up, he should be carried away with a safe sport, such as swimming. Swimming is completely safe for a child with hemophilia, and it also helps strengthen the joints.

Diagnosis of the disease

Diagnosis of hemophilia is carried out using several laboratory tests.

Diagnosis of hemophilia is carried out using the following laboratory tests:

• Long clotting time of capillary and venous blood;
• Disrupted process of formation of thromboplastin;
• Slow down recalcification time;
• Decreased consumption of prothrombin

How is hemophilia treated?

Treatment of hemophilia is reduced to substitution therapy, in which concentrates VIII and IX of blood coagulation factors are used.

Sadly, but the treatment of hemophilia today does not allow to save the patient from this disease.

Treatment of hemophilia is reduced to substitution therapy, in which concentrates VIII and IX of blood coagulation factors are used. In each case, drugs and doses are determined.

Antihemophilic drugs are administered intravenously in a stream. Injections are given to patients daily 1-2 times a day.

If a hemorrhage occurs in the joint, the patient must be provided with complete rest for 3-5 days and completely immobilize the diseased part of the body. With a massive hemorrhage, a puncture is performed and hydrocortisone is injected into the joint. Then the patient is prescribed a light massage of the limb and physiotherapy.

Hemophilia is extremely dangerous disease especially in childhood. Timely appeal to a professional hematologist can improve the course of the disease and stabilize the condition of the patient's body. A person with hemophilia has no choice but to learn to live with this disease and understand that his body needs special precautions.