Journal article

HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity

Lyle C Gurrin, Nadine A Bertalli, Gregory W Dalton, Nicholas J Osborne, Clare C Constantine, Christine E McLaren, Dallas R English, Dorota M Gertig, Martin B Delatycki, Amanda J Nicoll, Melissa C Southey, John L Hopper, Graham G Giles, Gregory J Anderson, John K Olunyk, Lawrie W Powell, Katrina J Allen

HEPATOLOGY | WILEY | Published : 2009

Abstract

UNLABELLED: The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed questionnaires and gave blood. Clinical examinations were blinded to HFE genotype. A total of 180 (84 males) clinically examined C282Y/H63D participants were compared with 330 (149 males) c..

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Grants

Awarded by National Institute of Diabetes and Digestive and Kidney Diseases (USA)


Awarded by National Health and Medical Research Council (NHMRC, Australia)


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

Funded by National Institute of Diabetes and Digestive and Kidney Diseases (USA) (1 RO1 DK061885-01 A2) and the National Health and Medical Research Council (NHMRC, Australia) (grants 251668, 209057). Cohort recruitment was funded by VicHealth and the Cancer Council Victoria. The NHMRC provided funding for the following authors: L.C.C. and K.J.A. (Career Development Award), M.B.D. and J.K.O (Practitioner Fellowship), M.C.S. and G.J.A. (Senior Research Fellowship), J.L.H. (Australia Fellowsbip).