title: Unconventional diagnosis of Normandy-type von Willebrand's disease in a blood donor.
abstract: We report the case of a long-standing female blood donor whose blood donation was processed for cryoprecipitate. The cryoprecipitate unit was chosen at random for FVIII:C estimation as part of the quality control, and a low FVIII:C level was identified. The cause of this was subsequently shown to be the Normandy variant of type-2 von Willebrand's disease due to a homozygous Arg854Gln mutation in the von Willebrand factor gene.
authors.affiliation: Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK.
authors.forename: S
authors.initials: S
authors.lastname: Kashyap
authors.forename: I M
authors.initials: IM
authors.lastname: Nesbitt
authors.forename: M
authors.initials: M
authors.lastname: Makris
mesh_terms: D016913:Blood Component Transfusion / Q000592:standards; D001782:Blood Donors; D005169:Factor VIII / Q000032:analysis; D005260:Female; D005340:Fibrinogen; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010314:Partial Thromboplastin Time; D011786:Quality Control; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: C026912:cryoprecipitate coagulum; D005169:Factor VIII; D005340:Fibrinogen