منابع مشابه
The molecular biology of von Willebrand disease.
von Willebrand disease is the most common inherited bleeding disorder in humans, with the general population prevalence estimated to be as high as 1% in some studies. This condition exhibits extensive heterogeneity with over 20 distinct subtypes distinguished based on subtle clinical and laboratory differences in presentation. Recent research laboratory advances have shed considerable new light...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Reduced von Willebrand factor survival in type Vicenza von Willebrand disease
Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VW...
متن کاملDefining von Willebrand disease.
for repeat testing. The authors’ conclusion that it should be considered for screening patients requires further consideration and study but conceivably, this assay should improve the future of VWD diagnosis. Conflict-of-interest disclosure: P.D.J. has received research funding from Bayer, CSL Behring, and Octapharma; and honoraria for educational talks from Baxalta, CSL Behring, and Octapharma. n
متن کاملVon Willebrand disease
hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis 1996;22:254–8. 8 Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 2004;41:165–72. 9 Carella M, Stewart G, Ajetunmobi JF et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus ...
متن کاملVon Willebrand disease
There are three major types of VWD disease. Type 1, the most frequent form, is characterized by a partial quantitative deficiency in von Willebrand factor (VWF). Type 2 is a qualitative deficiency, and Type 3 is a virtually complete deficiency. Type 2 VWD is divided into four subtypes. Type 2A includes variants with decreased platelet adhesion caused by a selective deficiency in high-molecular ...
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ژورنال
عنوان ژورنال: Haemophilia
سال: 2012
ISSN: 1351-8216
DOI: 10.1111/j.1365-2516.2012.02840.x