17 April - World Hemophilia Day

Hemophilia - hereditary blood disease, which is caused by a congenital absence or decrease in the number of coagulation factors. The disease is characterized by a bleeding disorder and manifests itself in frequent joint hemorrhages., muscles and internal organs.

The coagulation system ensures the preservation of blood inside the vessels, in violation of their integrity (injuries, medical interventions), not letting her pour out, closing damage with special clots (blood clots). Clots form as a result of biochemical reactions between molecules, present in the blood of every person. When studying the coagulation system, they were called "coagulation factors".

The cause of increased bleeding in hemophilia is a violation of the synthesis of plasma coagulation factor molecules. In this regard, the following main forms of hemophilia are distinguished:

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

Hemophilia A accounts for 80% cases, hemophilia B - 12%. To the remaining 8% other violations, due to a defect in the production of factors or a lack of factors with other numbers.

Hemophilia genes are on the sex X chromosome, which is transmitted from grandfather to grandson through a healthy daughter - a carrier of a defective gene. That is, men usually suffer from the disease, women act as carriers of hemophilia and can give birth to sick sons or daughters-carriers. According to WHO statistics, approximately one male infant from 5000 born with hemophilia A, regardless of national or racial affiliation.

Symptoms of Hemophilia. In newborns, signs of hemophilia can be prolonged bleeding from the umbilical wound, subcutaneous hematomas. Bleeding in children of the first year of life may be associated with teething, operations. The sharp edges of milk teeth can cause a bite of the tongue., lips, cheeks and bleeding from the mucous membranes of the oral cavity. but, in infancy, hemophilia rarely makes its debut due to, that breast milk contains a sufficient amount of the active enzyme - thrombokinase, which is able to improve clot formation.

The likelihood of post-traumatic bleeding increases significantly, when a child with hemophilia starts to get up and walk. Children after a year are characterized by nosebleeds, subcutaneous and intramuscular hematomas, large joint hemorrhages. Exacerbations of hemorrhagic diathesis occur after infections (SARS, chickenpox, rubella, bark, flu and others) due to impaired vascular permeability. In this case, spontaneous minor hemorrhages often occur. Due to persistent and prolonged bleeding, children with hemophilia develop anemia varying degrees of severity.

With hemophilia, hemorrhages often occur in the soft tissues - subcutaneous tissue and muscles. In children, persistent bruises are found on the trunk and limbs.

A characteristic feature of hemophilia is delayed bleeding, which usually does not develop immediately after an injury, and after a while, sometimes later 6-12 hours.

Diagnostics. Diagnosis of hemophilia is based on a family history, clinical picture and laboratory data, among which the leading value are:

• increase in the duration of coagulation of capillary and venous blood;
• a decrease in the concentration of one of the antihemophilic factors (VIII, IX).

Hemophilia treatment. Substitution therapy is the main treatment for hemophilia. For this purpose, concentrates of 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, genetic counseling is carried out, prenatal diagnosis possible.

Advice to patients is provided on the basis of hematological departments of regional hospitals, consultative centers of large cities, RNPC.