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Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?

MacLean, R. M., Feeney, G. P., Bowley, S. J., Bowen, Derrick John, Worwood, Mark and Collins, Peter William ORCID: https://orcid.org/0000-0002-6410-1324 1999. Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease? British Journal of Haematology 107 (1) , pp. 210-212. 10.1046/j.1365-2141.1999.01663.x

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Abstract

The involvement in venous thrombosis of the two most common mutations of the hereditary haemochromatosis gene (HFE C282Y and HFE H63D) was investigated in 239 patients with objectively proven venous thrombosis. Neither mutation showed an increased prevalence in the cohort (HFE C282Y: 13.0% (95% CI 9.3-17.8) patients, 16.2% (95% CI 14.3-18.2) controls; HFE H63D: 28.3% (95% CI 22.9-34.3) patients, 28.1% (95% CI 25.8-30.6) controls. Neither mutation was increased in patients with factor V Leiden (FVL) compared to those without. However, HFE C282Y was increased among patients who had both FVL and a family history of thrombosis (7/20), compared with those with FVL and no family history (1/22) (relative risk 7.97, 95% CI 1.5-43.1, P = 0.016).

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Systems Immunity Research Institute (SIURI)
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Factor V Leiden; Haemochromatosis; Venous thrombosis; Activated protein C resistance.
Publisher: Wiley-Blackwell
ISSN: 0007-1048
Last Modified: 04 Jan 2023 02:12
URI: https://orca.cardiff.ac.uk/id/eprint/57284

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