The Molecular Genetics of von Willebrand Disease

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 env...

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Main Author: Ergül Berber
Format: Article
Language:English
Published: Galenos Publishing House 2012-12-01
Series:Turkish Journal of Hematology
Subjects:
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205
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author Ergül Berber
author_facet Ergül Berber
author_sort Ergül Berber
collection DOAJ
description 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.
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spelling doaj.art-30b1aeab55a8440b8f299b09e57344f52023-02-15T16:09:16ZengGalenos Publishing HouseTurkish Journal of Hematology1308-52632012-12-0129431332410.5505/tjh.2012.39205TJH-39205The Molecular Genetics of von Willebrand DiseaseErgül Berber0İstanbul Arel University, Department Of Molecular Biology And Genetics, İstanbul, TurkeyQuantitative 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205von willebrand factorvon willebrand diseasevon willebrand factor biosynthesis
spellingShingle Ergül Berber
The Molecular Genetics of von Willebrand Disease
Turkish Journal of Hematology
von willebrand factor
von willebrand disease
von willebrand factor biosynthesis
title The Molecular Genetics of von Willebrand Disease
title_full The Molecular Genetics of von Willebrand Disease
title_fullStr The Molecular Genetics of von Willebrand Disease
title_full_unstemmed The Molecular Genetics of von Willebrand Disease
title_short The Molecular Genetics of von Willebrand Disease
title_sort molecular genetics of von willebrand disease
topic von willebrand factor
von willebrand disease
von willebrand factor biosynthesis
url https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-39205
work_keys_str_mv AT ergulberber themoleculargeneticsofvonwillebranddisease
AT ergulberber moleculargeneticsofvonwillebranddisease