Hemofiliat

Hemofiliat, commonly referred to as hemophilia in English, is a hereditary bleeding disorder caused by a deficiency or dysfunction of coagulation factors, most often factor VIII or IX. The two main forms are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). The condition is X-linked recessive, so it predominantly affects male individuals, while females are typically carriers; rare cases involve affected females or homozygous mutations.

Causes include mutations in F8 (A) or F9 (B) genes, often inherited but also arising de novo. The missing or defective factor impairs the intrinsic coagulation cascade, leading to excessive or prolonged bleeding after injury or spontaneously in severe cases.

Symptoms range from prolonged nosebleeds, heavy menstrual bleeding, to deep muscle or joint hematomas and spontaneous joint bleeding (hemarthrosis). Mild disease may only present after surgery or trauma. Diagnosis typically shows a prolonged activated partial thromboplastin time (aPTT) with normal prothrombin time (PT), and is confirmed by coagulation factor activity assays. Severity is classified by residual factor activity: severe (<1%), moderate (1–5%), mild (5–30%).

Treatment involves replacement therapy with recombinant or plasma-derived factor concentrates to restore factor levels. Prophylactic treatment is standard for many with severe disease. Desmopressin may help some patients with mild hemophilia A. In patients who develop inhibitors (antibodies to factor VIII or IX), bypassing agents or immune tolerance strategies are used. Supportive care includes avoiding NSAIDs, prompt treatment of bleeds, and dental care.

Prognosis has improved dramatically with modern therapy; life expectancy can approach normal with access to care. Epidemiology estimates that hemophilia A affects about 1 in 5,000 male births and hemophilia B about 1 in 30,000, with regional variation. Genetic counseling is recommended for families.