Von Willebrand disease type 2B with a novel mutation in the VWF gene
نویسندگان
چکیده
منابع مشابه
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.
Montreal platelet syndrome (MPS), hitherto described in only one kindred, is a hereditary thrombocytopenia associated with mucocutaneous bleeding, giant platelets, and spontaneous platelet aggregation in vitro. These are features shared with some forms of type 2B von Willebrand disease (VWD); however, the MPS kindred had not been investigated for VWD. We found that all affected MPS family membe...
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Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...
متن کاملThrombocytopathy and type 2B von Willebrand disease.
The knowledge gained from "experiments of nature" has always been paramount in identifying key players in pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. In most cases, it is the absence of a particular protein that leads to recognition of its importance for normal physiology. On the other hand, gain-of-function mutations highlight...
متن کاملIdentification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease
von Willebrand factor (VWF) is essential for normal hemostasis. VWF gene mutations cause the hemorrhagic von Willebrand disease (VWD). In this study, a 9-year-old boy was diagnosed as type 2A VWD, based on a history of abnormal bleeding, low plasma VWF antigen and activity, low plasma factor VIII activity, and lack of plasma high-molecular-weight (HMW) VWF multimers. Sequencing analysis detecte...
متن کاملPrevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.
von Willebrand disease type 2B (VWD2B) is due to a unique gain-of-function variant of von Willebrand factor (VWF) that spontaneously interacts with circulating platelets, usually resulting in loss of VWF high molecular weight multimers (HMWM) in plasma and, in most cases, low platelet counts, especially after stress situations [1,2]. Diagnosis of VWD2B is based on heightened ristocetin-induced ...
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ژورنال
عنوان ژورنال: Annals of Saudi Medicine
سال: 2021
ISSN: 0256-4947,0975-4466
DOI: 10.5144/0256-4947.2021.59