Hemophilia

Hemophilia is an X-linked recessive hereditary bleeding disorder. Hemophilia A is factor-VIII deficiency; hemophilia B (Christmas disease) is factor-IX deficiency. Clinical features: spontaneous bleeding, recurrent joint/muscle hematoma, prolonged bleeding after trauma/surgery; severe cases have crippling hemophilic arthropathy.

Common Symptoms

Spontaneous bleeding; joint swelling/pain; muscle hematoma; prolonged bleeding; hematuria; intracranial hemorrhage

Causes and Pathogenesis

X-linked recessive mutation of F8 (A) or F9 (B) gene causes deficient factor VIII/IX activity, impairing intrinsic coagulation pathway and causing prolonged bleeding.

Treatment

Factor VIII/IX replacement; desmopressin for mild A; avoid aspirin/NSAIDs; prophylaxis

Preventive Measures

Genetic counseling; carrier detection; prenatal diagnosis; regular factor prophylaxis; avoid trauma/intramuscular injections.

Department to Visit

It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.