Classic hemophilia A in a female.
A 53-year-old woman with a history of recurrent bleeding complications since childhood and a positive family bleeding history, previously diagnosed as von Willebrand's disease, was investigated. She was found to have a markedly reduced level of antihemophilic factor (AHF) activity, a low AHF activity/AHF antigen ratio, normal Ristocetin-induced platelet aggregation and a normal level of von Willebrand factor activity. These findings were consistent with the diagnosis of classic hemophilia A which was confirmed by the results of similar studies in nine of the patient's relatives. The report illustrates the usefulness of newer laboratory methods in the differentiation between classic hemophilia A and von Willebrand's disease which may have important clinical implications.
D000941:Antigens / Q000032:analysis; D003937:Diagnosis, Differential; D005169:Factor VIII / Q000032:analysis; D005260:Female; D006467:Hemophilia A / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010974:Platelet Aggregation; D014842:von Willebrand Diseases / Q000175:diagnosis*; D014841:von Willebrand Factor / Q000032:analysis
D000941:Antigens; D014841:von Willebrand Factor; D005169:Factor VIII