Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis HFE C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study
Objectives To test whether haemochromatosis HFE C282Y homozygotes have increased risk of diabetes, liver disease, and heart disease even when they have normal plasma iron, transferrin saturation, or ferritin concentrations and to test whether C282Y homozygotes with diabetes, liver disease, or heart disease have increased mortality compared with non-carriers with these diseases. Design Prospective cohort study. Setting Three Danish general population cohorts: the Copenhagen City Heart Study, the Copenhagen General Population Study, and the Danish General Suburban Population Study. Participants 132 542 individuals genotyped for the HFE C282Y and H63D variants, 422 of whom were C282Y homozygotes, followed prospectively for up to 27 years after study enrolment. Main outcome measure Hospital contacts and deaths, retrieved from national registers, covering all hospitals and deaths in Denmark. Results Comparing C282Y homozygotes with non-carriers, hazard ratios were 1.72 (95% confidence inter