Unconventional diagnosis of Normandy-type von Willebrand's disease in a blood donor

Transfus Med. 2004 Apr;14(2):181-4. doi: 10.1111/j.0958-7578.2004.0495.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Blood Component Transfusion / standards
  • Blood Donors*
  • Factor VIII / analysis
  • Female
  • Fibrinogen
  • Homozygote
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Partial Thromboplastin Time
  • Quality Control
  • von Willebrand Diseases / blood
  • von Willebrand Diseases / diagnosis*
  • von Willebrand Diseases / genetics

Substances

  • cryoprecipitate coagulum
  • Factor VIII
  • Fibrinogen