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Hemophilia – a rare hereditary disease associated with a violation of the blood clotting process. With this disease, hemorrhages occur in the joints, muscles and internal organs, both spontaneously and as a result of injury or surgery.

The coagulation system ensures the preservation of blood inside the vessels when their integrity is violated (trauma, medical interventions), preventing it from flowing out, closing the damage with special clots (thrombi). Clots form as a result of biochemical reactions between molecules present in the blood of each person. When studying the coagulation system, they were called “coagulation factors.”

Cause increased bleeding in hemophilia – a violation of the synthesis of molecules of plasma coagulation factors. In this regard, the following main forms of hemophilia are distinguished:

• hemophilia A – caused by a deficiency of coagulation factor VIII;
• hemophilia B – caused by factor IX deficiency;

Hemophilia A accounts for 80% of cases, hemophilia B – 12%. The remaining 8% account for other violations caused by a defect in the production of factors or a lack of factors with other numbers.

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

Symptoms of hemophilia

The leading symptoms of hemophilia A and B are increased bleeding from the first months of life; subcutaneous, intermuscular, subfascial, retroperitoneal hematomas caused by bruises, cuts, various surgical interventions; heavy post-traumatic bleeding; hemarthrosis of large joints, with secondary inflammatory changes.

In newborns, signs of hemophilia can include prolonged bleeding from the umbilical wound and subcutaneous hematomas. Bleeding in children in the first year of life can be associated with teething; the sharp edges of baby teeth can cause biting of the tongue, lips, cheeks and bleeding from the mucous membranes of the oral cavity. However, hemophilia rarely debuts in infancy due to the fact that breast milk contains a sufficient amount of the active enzyme, thrombokinase, which can improve clot formation.

The likelihood of post-traumatic bleeding increases significantly when a child with hemophilia begins to stand and walk. Children after one year are characterized by nosebleeds, subcutaneous and intermuscular hematomas, and hemorrhages in large joints. Exacerbations of hemorrhagic diathesis occur after infections (ARVI, chickenpox, rubella, measles, influenza, etc.) due to impaired vascular permeability. In this case, spontaneous minor hemorrhages often occur. Due to constant and prolonged bleeding, children with hemophilia develop anemia of varying severity.

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

Hemophilia is not necessarily inherited. Spontaneous mutations in human DNA occur all the time. And therefore, it is possible for hemophilia to occur in a family where no one has ever suffered from this disease – so-called sporadic hemophilia. It is not so rare – in a third of all cases of the disease.

For diagnostics гемофилии применяется: коагулограмма, определение времени свёртываемости, добавление образцов плазмы с отсутствием одного из факторов свёртывания.

Treatment of hemophilia

Replacement therapy is the main treatment for hemophilia. For this purpose, concentrates of blood coagulation factors VIII and IX are used in individual doses for each patient and type of bleeding.

Prevention of hemophilia

In order to prevent the birth of a child with hemophilia, medical genetic counseling is carried out, and prenatal diagnosis is possible.