Von Willebrand's syndrome. Studies on a variant factor VIII.
A girl with symptoms of von Willebrand's disease was found to have a slightly reduced or normal FVIII procoagulant activity, normal FVIII-related antigen (VIIIR:AG) and virtually absent von Willebrand's factor. The electrophoretic mobility of the VIIIR:AG in this patient's plasma and plasma fractions was increased and has been compared with that of two reported patients with FVIII variants. Her lysed platelets contained increased amounts of VIIIR:AG which had an increased anodal migration identical to her plasma VIIIR:AG. Experiments involving the selective absorption of a rabbit antiserum with the patient's plasma provide evidence that VIIIR:AG and von Willebrand's factor are immunologically distinct.
D000293:Adolescent; D000941:Antigens; D011232:Chemical Precipitation; D002850:Chromatography, Gel; D003450:Cryoglobulins; D005169:Factor VIII / Q000032:analysis / Q000276:immunology; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007106:Immune Sera / Q000494:pharmacology; D007123:Immunoelectrophoresis, Two-Dimensional; D007163:Immunosorbent Techniques; D010974:Platelet Aggregation; D012310:Ristocetin / Q000494:pharmacology; D014842:von Willebrand Diseases / Q000097:blood*
D000941:Antigens; D003450:Cryoglobulins; D007106:Immune Sera; D012310:Ristocetin; D005169:Factor VIII