HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

LC Gurrin; NA Bertalli; GW Dalton; NJ Osborne; CC Constantine; CE McLaren; DR English; DM Gertig; MB Delatycki; AJ Nicoll; MC Southey; JL Hopper; GG Giles; GJ Anderson; JK Olynyk; LW Powell; KJ Allen

Journal article

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

LC Gurrin, NA Bertalli, GW Dalton, NJ Osborne, CC Constantine, CE McLaren, DR English, DM Gertig, MB Delatycki, AJ Nicoll, MC Southey, JL Hopper, GG Giles, GJ Anderson, JK Olynyk, LW Powell, KJ Allen

Hepatology | WILEY | Published : 2009

DOI: 10.1002/hep.22972

Abstract

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) controls with..

View full abstract

University of Melbourne Researchers

Lyle Gurrin Author

Dallas English Author

Dorota Gertig Author

Martin Delatycki Author

Related Projects (3)

GENETIC MODIFIERS OF HEMOCHROMATOSIS

DESCRIPTION (provided by applicant): Hereditary hemochromatosis (HH) is a common disorder of iron overload and over 80% of patients are homo..

Epidemiology of Hereditary Haemochromatosis

One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortali..

Epidemiology of chronic disease, health interventions and DNA studies

Grants

Awarded by National Heart, Lung, and Blood Institute

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).