Article
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.
Thrombosis research - 1 Feb 2010
Ozeki Michio, Kunishima Shinji, Kasahara Kimiko, Funato Michinori, Teramoto Takahide, Kaneko Hideo, Fukao Toshiyuki, Kondo Naomi
Abstract excerpt
In type 2B von Willebrand disease (2B VWD), abnormal von Willebrand factor (VWF) spontaneously binds to platelets. This leads to the clearance of the high molecular weight multimers (HMWM) of VWF and results in thrombocytopenia. Herein we report a family of 2B VWD with an R1306W mutation which caused thrombocytopenia with giant platelets. The most important finding in this study is dynamic changes in VWF values...
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