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Effect of Hemochromatosis Genotype and Lifestyle Factors on Iron and Red Cell Indices in a Community Population

¹ Biochemistry Section, Pathcentre, QE II Medical Centre, Nedlands, Western Australia 6009, Australia.

² Department of Public Health and
³ University Department of Medicine, University of Western Australia, Fremantle, Western Australia 6160, Australia.

⁴ Department of Gastroenterology, Fremantle Hospital, Fremantle, Western Australia 6160, Australia.

⁵ Busselton Population Medical Research Foundation, Perth, Western Australia 6907, Australia.

⁶ Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia.
^a Author for correspondence. Fax 61-8-9346-3882; e-mail ric.rossi{at}health.wa.gov.au.

Background: Heterozygotes for the C282Y mutation of the HFE gene may have altered hematology indices and higher iron stores than wild-type subjects.

Methods: We performed a cross-sectional analysis of 1488 females and 1522 males 20–79 years of age drawn from the Busselton (Australia) population study to assess the effects of HFE genotype, age, gender, and lifestyle on serum iron and hematology indices.

Results: Male C282Y heterozygotes had increased transferrin saturation compared with the wild-type genotype. Neither male nor female heterozygotes had significantly increased ferritin values compared with the wild-type genotype. Younger (20–29 years) wild-type males, but not heterozygous males, had significantly lower ferritin values than wild-type males in the older age groups. Compound heterozygous subjects had increased means for serum iron, transferrin saturation, corpuscular volume, and corpuscular hemoglobin compared with the wild-type genotype, and the males also had increased ferritin values (medians 323 vs 177 µg/L; P = 0.003). In both male and female wild-type subjects, an increased body mass index was associated with decreased serum iron and transferrin saturation and increased ferritin values. There was a significant increase in ferritin concentrations in both genders with increasing frequency of red meat consumption above a baseline of 1–2 times per week and alcohol intakes >10 g/day.

Conclusions: Male C282Y heterozygotes had significantly increased transferrin saturation values. Compound heterozygous (C282Y/H63D) subjects formed a separate category of C282Y heterozygotes in whom both iron and red cell indices were significantly increased compared with the wild-type genotype.

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