Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation.
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.
Brown
K
K
Department of Haematology, Addenbrooke's NHS Trust, Cambridge, UK.
Luddington
R
R
Taylor
S A
SA
Lillicrap
D P
DP
Baglin
T P
TP
D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013923:Thromboembolism / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
C095381:factor V Leiden; D005165:Factor V