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Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation
Author(s) -
Brown Karen,
Luddington Roger,
Taylor Sherryl A. M.,
Lillicrap David P.,
Baglin Trevor P.
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 - 10.1111/j.1365-2141.1999.01316.x
Subject(s) - odds ratio , factor v leiden , medicine , gastroenterology , risk factor , factor v , allele , venous thrombosis , case control study , hemochromatosis , hereditary hemochromatosis , thrombophilia , genetics , thrombosis , biology , gene
A high prevalence of a common mutation in the Hfe gene (C282Y) has recently been reported in patients with the factor V Leiden mutation and a history of thrombosis. The aim of this study was to estimate the relative risk of venous thromboembolism in a large case–control study. 56/481 patients (11.6%) and 57/497 controls (11.5%) were heterozygous for the C282Y allele giving an odds ratio of 1.02 (95%CI 0.69–1.51). 12/81 patients with the factor V Leiden mutation were heterozygous for the C282Y allele compared to 1/13 controls, odds ratio 2.09 (95%CI 0.25–17.6). An analysis of a further group of patients and controls selected for the factor V Leiden mutation did not indicate a higher prevalence of the C282Y allele in symptomatic patients, odds ratio 0.17 (95%CI 0.34–0.81). This study does not support the hypothesis that the C282Y allele is an additional risk factor for venous thrombosis in patients with the factor V Leiden mutation.