K. Brown et al., Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation, BR J HAEM, 105(1), 1999, pp. 95-97
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 v
enous 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 con
trols, 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 in
dicate a higher prevalence of the C282Y allele in symptomatic patients, odd
s 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.