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The molecular characterization of von W illebrand disease: good in parts
Author(s) -
James P.D.,
Lillicrap D.
Publication year - 2013
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.12249
Subject(s) - von willebrand disease , von willebrand factor , disease , molecular pathology , molecular genetics , biology , locus (genetics) , genetics , immunology , gene , medicine , pathology , platelet
Summary Since the cloning of the gene that encodes von Willebrand factor ( VWF ), 27 years ago, significant progress has been made in our understanding of the molecular basis of the most common inherited bleeding disorder, von Willebrand disease ( VWD ). The molecular pathology of this condition represents a range of genetic mechanisms, some of which are now very well characterized, and others that are still under investigation. In general, our knowledge of the molecular basis of type 2 and 3 VWD is now well advanced, and in some instances this information is being used to enhance clinical management. In contrast, our understanding of the molecular pathogenesis of the most common form of VWD , type 1 disease, is still at an early stage, with preliminary evidence that this phenotype involves a complex interplay between environmental factors and the influence of genetic variability both within and outside of the VWF locus.