Hemophilia Cofactor

Cofactor hemophilia is a group of diseases that are associated with dysfunction of the blood clotting system. These are hereditary diseases that arise due to mutations in the genes responsible for the production of the activator proteins of blood clotting factors VIII and IX. Cofactor hemophilias are rare diseases that affect more than 500 people worldwide. Although these diseases are very rare, they can have serious consequences for a person's health and require constant medical monitoring and treatment.

The cause of cofactor hemophilia is a genetic defect - the absence of one of the two cofactor proteins VIII or IX, which leads to impaired thrombus formation. Without these cofactors, clotting factors cannot be activated and lead to the formation of a blood clot, which prevents bleeding. The person may suffer from bleeding, which can lead to serious consequences.

Hereditary hemophilia has its own characteristics depending on which cofactors are missing. For example, hemophilia A lacks factor VIII, and hemophilia B lacks factor IX. Both forms of hemophilia have their own characteristics. Hemophilia A is characterized by massive hemorrhages, often developing even with the most minor injuries. In children under 2 years of age, manifestations of hemophilia are limited to bleeding from the nose, lungs and other small vessels, or symmetrical swelling of both thighs along the saphenous veins is observed, less often - an increase in the size of the liver and spleen. In adolescence and young adulthood, bone forms of hemophilia are manifested by dislocations of large joints, rupture of the capsule of the hip joint and its subsequent deformation (the so-called ossifying hematoma), as well as various fractures of long bones such as simple osteomyelitis.