[Late diagnosis of severe hemophilia A]

Haemophilia A and B are congenital bleeding disorders caused by a deficiency of factor VIII:C or IX:C in plasma. An early diagnosis is crucial to reduce the risk of permanent handicaps. A case of a 14 year-old boy is described. He was admitted to hospital with haematuria at the age of 12, but remained undiagnosed for another two years, when he was readmitted with an iliopsoas muscle bleeding affecting the femoral nerve. Laboratory findings showed a severe haemophilia A. The symptoms leading to the diagnosis and the differences between the various degrees of haemophilia are discussed. Retrospectively, the patient could have been diagnosed earlier if one had accounted for the more rare manifestations. In haemophilia bleeding time, platelet count, fibrinogen and factor II, VII and X are all normal. Only APTT is prolonged and should lead to further tests including factor VIII:C and IX:C.