Hemophilia: Pathophysiology, Diagnosis and Treatment

Abstract

Hemophilia is a serious hereditary blood coagulation disorder caused by a deficiency of clotting activity of factor VIII (hemophilia A) or IX (hemophilia B). The disease is caused by alterations in the coding genes of these factors located on the long arm of the sex chromosome X. Thus its occurrence in males is almost exclusive due to the man’s presenting only one X chromosome. The severity of the disease can vary from severe, mild and moderately severe after dosage of the factors VIII and IX clotting. One of the most feared complications of patients with this disease refers to the development of inhibitors that are antibodies directed against the factors infused. The diagnosis is made through laboratory tests, mainly by coagulation profile and serum specific factors, based on the clinical manifestations of the patient. Hemophilia is not curable, and the basis of its treatment is the infusion of the deficient factor concentrate. However, patients may develop specific inhibitors to the factors infused and in these cases the treatment alternatives are the use of biotechnology to new drugs and the use of gene therapy.