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High concentrations of coagulation factor VIII and thrombosis: is the factor VIII‐binding domain of von Willebrand factor implicated?
Author(s) -
Bowen Derrick J.,
Maclean Rhona M.,
Pellard Sarah,
Collins Peter W.
Publication year - 2001
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 - 10.1046/j.1365-2141.2001.02830.x
Subject(s) - von willebrand factor , coagulation , thrombosis , von willebrand disease , exon , medicine , coagulopathy , factor v , genetics , biology , gene , platelet
The possibility that high factor VIII (FVIII) levels in thrombosis patients is principally explained by a gain of function in the FVIII‐binding domain of von Willebrand factor (VWF), arising from amino acid substitution(s) or polymorphism(s), was investigated. Exons 18–24 of the VWF gene were sequenced in 13 thrombosis patients with high FVIII (> 1·50 IU/ml). No novel mutations were found. Four known polymorphisms were detected: G2615A and C2635T (Ex18), G2805A (Ex20) and G3130A (Ex22). Their frequencies showed no significant differences in a thrombosis vs. control cohort. The data suggest that amino acid substitutions/polymorphisms in the VWF‐FVIII‐binding domain are not the principal explanation for high FVIII in thrombosis patients.