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

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.