High concentrations of coagulation factor VIII and thrombosis: Is the factor VIII-binding domain of von Willebrand factor implicated?

Bowen, Derrick John, MacLean, Rhona M., Pellard, Sarah and Collins, Peter William ORCID: https://orcid.org/0000-0002-6410-1324 2001. High concentrations of coagulation factor VIII and thrombosis: Is the factor VIII-binding domain of von Willebrand factor implicated? British Journal of Haematology 113 (3) , pp. 655-657. 10.1046/j.1365-2141.2001.02830.x

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Systems Immunity Research Institute (SIURI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Adolescent, Adult, Aged, Case-Control Studies, Factor VIII / metabolism*, Female, Heteroduplex Analysis, Humans, Male ,Middle Aged, Platelet Membrane Glycoproteins / genetics, Polymerase Chain Reaction, Polymorphism, Genetic*, Receptors, Cell Surface / genetics, Risk Factors, Thrombosis / blood*, von Willebrand Factor / genetics* Substances Platelet Membrane Glycoproteins,Receptors, Cell Surface,von Willebrand Factor,von Willebrand factor receptor,Factor VIII
Additional Information:	Full Text Sources Blackwell Publishing EBSCO Ovid Technologies, Inc. Other Literature Sources Labome Researcher Resource - ExactAntigen/Labome Medical F8 Gene - Genetics Home Reference VWF Gene - Genetics Home Reference
Publisher:	Wiley-Blackwell
ISSN:	0007-1048
Last Modified:	04 Jan 2023 02:13
URI:	https://orca.cardiff.ac.uk/id/eprint/57308

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