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

• Published in: Clinical chemistry (Baltimore, Md.) Vol. 47; no. 2; pp. 202 - 208
• Main Authors: Rossi, Enrico, Bulsara, Max K, Olynyk, John K, Cullen, Digby J, Summerville, Lesa, Powell, Lawrie W
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Washington, DC Am Assoc Clin Chem 01.02.2001; American Association for Clinical Chemistry
• Subjects: Adult; Age Factors; Aged; Alcohol Drinking; Biological and medical sciences; Diet; Erythrocyte Indices; Female; Ferritins - blood; Genotype; Hemochromatosis - blood; Hemochromatosis - genetics; Hemochromatosis - metabolism; Hemochromatosis Protein; Hemoglobins; Histocompatibility Antigens Class I - genetics; HLA Antigens - genetics; Humans; Iron - blood; Life Style; Male; Meat; Medical sciences; Membrane Proteins; Metabolic diseases; Metals (hemochromatosis...); Middle Aged; Obesity - blood; Obesity - metabolism; Other metabolic disorders; Prospective Studies; Sex Factors; Transferrin - metabolism; Urban Population; Human; Obesity; Hemochromatosis; Typing; Ethanol; Sex; Red blood cell; Metabolic diseases; Genotype; Iron; Enzymopathy; Meat; Blood cell; Genotype environment interaction; Diet; Risk factor; Genetics; Molecular biology; Blood cell count; Age; Nutritional status; Life style
• ISSN: 0009-9147; 1530-8561
• DOI: 10.1093/clinchem/47.2.202

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