title: [Von Willebrand-Jürgens syndrome with a variant of factor VIII-associated antigen].
abstract: A family is described in which 5 out of 8 children had a marked bleeding disorder. The children showed prolonged bleeding times, abnormal platelet retention upon passage of blood through a glass bead column, the Willebrand factor activity as measured by ristocetin in a washed platelet system was low. Factor VIII/von Willebrand factor protein levels were normal even so the factor VIII-procoagulant activity. Even the parents and one child without any bleeding tendency and normal bleeding times had a reduced Willebrand factor activity. In all these patients evidence of an abnormal protein was observed on crossed antigen-antibody electrophoresis indicating a qualitative defect of the factor VIII/von Willebrand factor protein.
mesh_terms: D000941:Antigens / Q000032:analysis*; D001780:Blood Coagulation Tests; D002648:Child; D005169:Factor VIII; D005260:Female; D006474:Hemorrhagic Disorders / Q000276:immunology; D006801:Humans; D007122:Immunoelectrophoresis; D008297:Male; D014842:von Willebrand Diseases / Q000276:immunology*
chemical_list: D000941:Antigens; D005169:Factor VIII
vernacular_title: Von Willebrand-Jürgens-Syndrom mit einer Variante des Faktor VIII-assoziierten Antigens