Hemophilia

Hemophilia is a hereditary disease associated with blood clotting disorders. It is characterized by increased bleeding even with minor injuries.

Causes and pathogenesis

Hemophilia is a hereditary disease that is transmitted in a recessive manner linked to the X chromosome. There are 3 main forms of hemophilia:

1. Hemophilia A is associated with a deficiency of coagulation factor VIII.

2. Hemophilia B is caused by a deficiency of coagulation factor IX.

3. Hemophilia C is caused by a deficiency of coagulation factor XI.

Mostly men get sick. Women are carriers of the defective gene.

Clinical manifestations

The first signs of hemophilia usually appear at the age of 1-2 years. There is increased bleeding even after minor injuries. Intramuscular, intraarticular, and subcutaneous hemorrhages are characteristic. Hemorrhages into internal organs are common.

Diagnosis is based on analysis of genealogical history and coagulogram.

Treatment

Treatment involves administering drugs containing the missing clotting factors. In case of bleeding, hemostatic therapy is carried out. A gentle regimen is necessary to prevent injury.

Prevention consists of medical and genetic counseling.

Thus, hemophilia is a severe hereditary disease that requires lifelong replacement therapy and careful prevention of trauma. Timely diagnosis and adequate treatment can achieve good results.

Hemophilia is a hereditary disease in which blood clotting is impaired. Its main feature is that a person develops a large number of factors VII and IX of blood coagulation (in general, one can say about any blood coagulation). They do not affect the coagulation process itself or the reaction to external influences, they are simply produced in too large quantities. As a result, all blood components are in a liquid state without proper viscosity.

The culprit of the lack of clotting is the c2 gene on the X chromosome. It is part of the factor VIII gene. When genetic material is passed from a man to a woman, and factor VIII is not a perfect copy, but has a small area of ​​defect, causing the component to be of reduced quality. Subsequently, hemophilia occurs.

Hemophilia is diagnosed immediately after birth, as soon as the absence of a blood clot on the newborn’s finger is detected. If treatment is carried out on time, then stop the destruction of platelets under