What Are the Symptoms of Hemophilia?
Hemophilia is a rare inherited bleeding disorder characterized by deficiencies in specific clotting factors—most commonly factor VIII (hemophilia A) or factor IX (hemophilia B). Individuals with hemop
Hemophilia is a rare inherited bleeding disorder characterized by deficiencies in specific clotting factors—most commonly factor VIII (hemophilia A) or factor IX (hemophilia B). Individuals with hemophilia experience prolonged or spontaneous bleeding due to impaired thrombin generation and unstable fibrin clot formation. Symptoms vary in severity depending on residual clotting factor activity but typically include:
Excessive and prolonged bleeding following minor injuries, dental procedures, or surgery; spontaneous joint hemorrhages (hemarthroses), particularly in the knees, elbows, and ankles, which can lead to chronic arthropathy and disability if untreated; deep muscle hematomas that may cause compartment syndrome or nerve compression; easy bruising, often with large, unexplained ecchymoses; and prolonged bleeding after circumcision in neonates. In severe cases, life-threatening intracranial, gastrointestinal, or retroperitoneal hemorrhage may occur.
It is important to note that hemophilia does not affect platelet count or function, nor does it impair primary hemostasis—so symptoms such as petechiae, mucosal bleeding (e.g., epistaxis or menorrhagia), or prolonged bleeding time are uncommon and should prompt evaluation for alternative diagnoses like von Willebrand disease or platelet disorders.