hemofiilia

Hemophilia is a genetic bleeding disorder defined by deficiency or dysfunction of specific clotting factors, most commonly factor VIII or factor IX, leading to prolonged bleeding. The condition is typically inherited in an X-linked recessive pattern, so it mostly affects males, while females are usually carriers who can transmit the gene to their children.

There are two major types: Hemophilia A, caused by insufficient factor VIII activity, and Hemophilia B, caused by insufficient factor IX activity. Severity is categorized by the baseline level of the missing factor: severe (<1%), moderate (1–5%), and mild (5–40%). Bleeding in hemophilia often occurs in joints and muscles and can occur spontaneously or after trauma or surgery. Recurrent joint bleeds can cause chronic pain, reduced mobility, and long-term joint damage; life-threatening bleeds, such as intracranial hemorrhage, can occur in severe cases.

Diagnosis typically involves coagulation tests showing a prolonged activated partial thromboplastin time (aPTT) with normal prothrombin time (PT), followed by specific factor activity assays and genetic testing. These tests help confirm the type and severity and guide family counseling.

Treatment focuses on replacing the missing factor through factor concentrates, used on demand or prophylactically to prevent bleeds, especially in severe disease. Desmopressin (DDAVP) can raise factor VIII levels in many with mild Hemophilia A. Antifibrinolytics like tranexamic acid may help with mucosal bleeds. Some patients develop inhibitors that neutralize infused factors, requiring alternative therapies. Global access to care and cost remain important public health considerations.