title: Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?
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).
authors.affiliation: Department of Haematology, University of Wales College of Medicine, Heath Park, Cardiff.
authors.forename: R M
authors.initials: RM
authors.lastname: MacLean
authors.forename: G P
authors.initials: GP
authors.lastname: Feeney
authors.forename: S J
authors.initials: SJ
authors.lastname: Bowley
authors.forename: D J
authors.initials: DJ
authors.lastname: Bowen
authors.forename: M
authors.initials: M
authors.lastname: Worwood
authors.forename: P W
authors.initials: PW
authors.lastname: Collins
mesh_terms: D020016:Activated Protein C Resistance / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013923:Thromboembolism / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V