Korean J Hematol.  2003 Nov;38(4):274-278.

Detection of Novel C4517G (Ser743Trp) Mutation in a Family with Type 2A von Willebrand Disease

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
  • 2Department of Laboratory Medicine, National Cancer Center, Ilsan, Korea.

Abstract

Quantitative von Willebrand disease (VWD) are divided into partial deficiency (type 1) and total deficiency (type 3). Qualitative VWD are devided further into four subcategories (2A, 2B, 2M, 2N) based upon the major mechanism by which von Willebrand factor (VWF) function is impaired. Type 2A is characterized by the absence of large molecular weight VWF multimers and a number of mutations have been identified in the region encoding the A2 domain of VWF where a normal cleavage site is situated. Here, we report a case of type 2A VWD in a 5 year-old girl with a novel C4517G (Ser743Trp) mutation, which was also detected in her mother.

Keyword

Von Willebrand disease; Von Willebrand factor; Mutation
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