Inherited Coagulation Factor VII and X Deficiencies Associated with Severe Bleeding Diathesis: Molecular Genetics and Pathophysiology

Author(s): K. Borensztajn, C. A. Spek

Journal Name: Current Genomics

Volume 6 , Issue 6 , 2005


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Abstract:

The rare inherited coagulation disorders are a fascinating group of diseases that have provided us with important insights into the structure and functions of their respective deficient proteins. Factor (F)VII deficiency is the commonest of these inherited disorders of coagulation, whereas FX deficiency is one of the rarest. Genes encoding the two proteins are located on the same chromosome at 13q34 and are separated by 2.8 kb only. Both proteins are vitamin K-dependent coagulations factors with a very strong structural homology. This review summarizes current knowledge on the prevalence, diagnosis and molecular pathology of FVII and FX deficiencies, and focuses on the genetic abnormalities associated with severe deficiencies and bleeding diathesis.

Keywords: Factor X, Par 1, structure, function

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Article Details

VOLUME: 6
ISSUE: 6
Year: 2005
Page: [383 - 400]
Pages: 18
DOI: 10.2174/138920205774483034
Price: $65

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