HFE Mutations and Hereditary Hemochromatosis

Hereditary hemochromatosis is a common genetic disorder, but we know little about its natural history. Patients with mutations in the hemochromatosis (HFE) gene display various disease phenotypes: genetic predisposition without iron overload, iron overload with or without symptoms, or iron overload with end-organ damage.

Researchers assessed the prevalence of iron overload–related disease, as well as morbidity and long-term mortality, for 31,192 people (age range, 40–69) of northern European descent who participated in the Melbourne Collaborative Cohort Study. Researchers identified 203 HFE C282Y homozygotes, 3295 C282Y heterozygotes, and 719 people who were heterozygous for two HFE mutations (C282Y and H63D; compound heterozygotes). Iron ov…