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Turk J Haematol. 2012 Dec;29(4):313-24. doi: 10.5505/tjh.2012.39205. Epub 2012 Dec 5.

The molecular genetics of von Willebrand disease.

Author information

1
İstanbul Arel University, Department of Molecular Biology and Genetics, İstanbul, Turkey.

Abstract

in English, Turkish

Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular pathogenesis. Some vWF gene mutations are associated with the affected vWF biosynthesis and multimerization, whereas others are associated with increased clearance and functional impairment. Moreover, in addition to a particular mutation, type O blood may result in the more severe phenotype. The present review aimed to provide a summary of the current literature on the molecular genetics of vWD.

CONFLICT OF INTEREST:

None declared.

KEYWORDS:

Von Willebrand factor; Von Willebrand factor biosynthesis; von Willebrand disease

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