Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population

Background: Heterozygotes for the C282Y mutation of the HFE gene may have a ltered hematology indices and higher iron stores than wild-type subjects. Methods: We performed a cross-sectional analysis of 1488 females and 1522 m ales 20-79 years of age drawn from the Busselton (Australia) population stu dy to assess the effects of HFE genotype, age, gender, and lifestyle on ser um iron and hematology indices. Results: Male C282Y heterozygotes had increased transferrin saturation comp ared with the wild-type genotype. Neither male nor female heterozygotes had significantly increased ferritin values compared with the wild-type genoty pe. Younger (20-29 years) wild-type males, but not heterozygous males, had significantly lower ferritin values than wild-type males in the older age g roups. Compound heterozygous subjects had increased means for serum iron, t ransferrin saturation, corpuscular volume, and corpuscular hemoglobin compa red with the wild-type genotype, and the males also had increased ferritin values (medians 323 vs 177 mug/L; P = 0.003). In both male and female wild- type subjects, an increased body mass index was associated with decreased s erum iron and transferrin saturation and increased ferritin values. There w as a significant increase in ferritin concentrations in both genders with i ncreasing frequency of red meat consumption above a baseline of 1-2 times p er week and alcohol intakes >10 g/day. Conclusions: Male C282Y heterozygotes had significantly increased transferr in saturation values. Compound heterozygous (C282Y/H63D) subjects formed a separate category of C282Y heterozygotes in whom both iron and red cell ind ices were significantly increased compared with the wild-type genotype. (C) 2001 American Association for Clinical Chemistry.