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Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?
Author(s) -
MacLean Rhona M.,
Feeney Graham P.,
Bowley Steven J.,
Bowen Derrick J.,
Worwood Mark,
Collins Peter W.
Publication year - 1999
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.1365-2141.1999.01663.x
Subject(s) - medicine , factor v leiden , hemochromatosis , venous thromboembolic disease , disease , venous thrombosis , thrombosis
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).