Journal article

HFE Cys282Tyr Homozygotes With Serum Ferritin Concentrations Below 1000 mu g/L Are at Low Risk of Hemochromatosis

Katrina J Allen, Nadine A Bertalli, Nicholas J Osborne, Clare C Constantine, Martin B Delatycki, Amy E Nisselle, Amanda J Nicoll, Dorota M Gertig, Christine E McLaren, Graham G Giles, John L Hopper, Gregory J Anderson, John K Olynyk, Lawrie W Powell, Lyle C Gurrin

HEPATOLOGY | WILEY | Published : 2010

Abstract

UNLABELLED: Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is a genetic predisposition to iron overload and subsequent signs and symptoms of disease that potentially affects approximately 80,000 persons in Australia and almost 1 million persons in the United States. Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. The optimal treatment regimen for those with SF concentrations above the normal range but <1000 microg/L is unknown. We assessed HFE mutations in a prospective cohort of 31,192 participants of northern European descent, aged 40-..

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Grants

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


Awarded by National Health and Medical Research Council (Australia)


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

This study was funded by National Institute of Diabetes, Digestive and Kidney Diseases (USA) (1 RO1 DK061885-01 A2) and the National Health and Medical Research Council (Australia) (grants no. 251668, 209057). Cohort recruitment was funded by VicHealth and The Cancer Council Victoria. The National Health and Medical Research Council also provided funding for the following authors: L.C.G. and K.J.A. (Career Development Awards), M.B.D. and J.K.O. (Practitioner Fellowships), G.J.A. (Senior Research Fellowship) and J.L.H. (Australia Fellowship).