Korean J Hematol 2003; 38(4):
Published online December 31, 2003
© The Korean Society of Hematology
송경순, 박영숙, 김현경
연세대학교 의과대학 진단검사의학교실,
국립암센터 진단검사의학과
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.
Keywords Von Willebrand disease, Von Willebrand factor, Mutation
Korean J Hematol 2003; 38(4): 274-278
Published online December 31, 2003
Copyright © The Korean Society of Hematology.
송경순, 박영숙, 김현경
연세대학교 의과대학 진단검사의학교실,
국립암센터 진단검사의학과
Kyung Soon Song, Hyun Kyung Kim, Young Sook Park
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
National Cancer Center, Ilsan, Korea
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.
Keywords: Von Willebrand disease, Von Willebrand factor, Mutation
Yoon Hwan Chang
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