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A case of type 2N von willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese Woman

Title
A case of type 2N von willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese Woman
Authors
Lee S.Y.Nam E.M.Lee S.N.Kim H.-J.Hong K.S.
Ewha Authors
홍기숙
SCOPUS Author ID
홍기숙scopus
Issue Date
2008
Journal Title
Korean Journal of Laboratory Medicine
ISSN
1598-6535JCR Link
Citation
vol. 28, no. 4, pp. 258 - 261
Indexed
SCOPUS WOS scopus
Abstract
Type 2N von Willebrand disease (vWD) can be confused with hemophilia A due to decreased factor VIII levels and a bleeding tendency, and differential diagnosis is of importance for providing the optimal treatment and genetic counseling. For the accurate diagnosis of type 2N vWD, von Wille-brand Factor (vWF) function tests, multimer assay and gene mutation analysis are needed. The patient was a 38-yr-old Nepalese woman with a history of bleeding manifestations from childhood, such as hemarthrosis, intramuscular hematoma, and menorrhagia. Family history revealed that her mother and elder brothers also had bleeding manifestations from childhood. When she had a laparotomy in 1991, she was diagnosed as hemophilia A with factor VIII level of 3.6% and was transfused with whole blood, factor VIII and cryoprecipitates. In June 2007, she was admitted to our hospital for further evaluation of bleeding tendency. Blood tests revealed normal CBC; bleeding time, 2 min; PT, 14.9 sec (11-14 sec); aPTT, 51.2 sec (24-38 sec); and factor VIII, 4.9% (50-150%). The prolonged aPTT was corrected by 1:1 mixing test to the levels of 106% and 84%, respectively, before and after 2 hr-incubation at 37°C. No abnormalities were found in the vWF antigen level (71.3%), ristocetin cofactor assay (130.4%), and multimer assay. Direct DNA sequencing of the VWF gene revealed homozygous missense mutation located in exon 19, c.2446C>T (p.Arg816Trp), confirming the diagnosis of type 2N vWD.
DOI
10.3343/kjlm.2008.28.4.258
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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