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Unconventional diagnosis of Normandy‐type von Willebrand's disease in a blood donor
Author(s) -
Kashyap S.,
Nesbitt I. M.,
Makris M.
Publication year - 2004
Publication title -
transfusion medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.471
H-Index - 59
eISSN - 1365-3148
pISSN - 0958-7578
DOI - 10.1111/j.0958-7578.2004.0495.x
Subject(s) - cryoprecipitate , von willebrand disease , von willebrand factor , blood type (non human) , medicine , blood donor , blood donations , donation , immunology , abo blood group system , platelet , economics , economic growth
summary 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.