Hemophilia A (
classic hemophilia) is an
hereditary coagulation disorder characterized by the absence, severe deficiency, or defective functioning of plasma
coagulation factor VIII. It is inherited in an X-linked recessive manner and occurs almost exclusively in males. The first manifestations of
bleeding are usually first noted as a young child since most of the patients with
hemophilia A have a profound deficiency of
factor VIII (less than 1% of normal value). However, in mild
hemophilia (5-25% of normal level of
factor VIII) the condition may escape detection with many of the patients developing
bleeding only after
trauma or surgery.
Hemophilia A is the result of a recent genetic mutation in approximately one third of patients, for whom often there is no family history of a
bleeding disorder. Here we present an elderly male patient with spontaneous
bleeding in an extremity that has coagulation studies consistent with the diagnosis of
hemophilia A. Physicians must be aware that mild
hemophilia can present in this unusual manner and should consider this possibility in patients that have unexplained
bleeding even if there is no clear personal or family history of an
hereditary coagulation disorder.