HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

L.C. Gurrin; N.A. Bertalli; G.W. Dalton; N.J. Osborne; C.C. Constantine; C.E. McLaren; D.R. English; D.M. Gertig; M.B. Delatycki; A.J. Nicoll; M.C. Southey; J.L. Hopper; G.G. Giles; G.J. Anderson; J.K. Olynyk; L.W. Powell; K.J. Allen

doi:10.1002/hep.22972

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HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

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HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

L.C. Gurrin, N.A. Bertalli, G.W. Dalton, N.J. Osborne, C.C. Constantine, C.E. McLaren, D.R. English, D.M. Gertig, M.B. Delatycki, A.J. Nicoll, …

Hepatology, Vol.50(1), pp.94-101

2009

DOI: https://doi.org/10.1002/hep.22972

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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 neither HFE mutation; 132 (65 males) and 270 (122 males), respectively, had serum iron measures at both timepoints. Mean serum ferritin (SF) and transferrin saturation (TS) were significantly greater for male and female compound heterozygotes than for wild-types at baseline and follow-up (all P < 0.02) except for females who were premenopausal at baseline, where SF was similar in both genotype groups. For subjects with serum measures from both baseline and follow-up, mean SF and TS levels did not change significantly for men or for postmenopausal women, but for premenopausal women SF levels increased from 43 to 109 μg/L for compound heterozygotes and from 35 to 64 μg/L for wild-types (both P < 0.001). Male and female compound heterozygotes had a similar prevalence of hemochromatosis-related morbidity to wild-types. One of 82 males and zero of 95 females had documented iron overload-related disease. Conclusion: For male compound heterozygotes, mean iron indices do not change during middle age but for female compound heterozygotes menopause results in increased mean SF. Although compound heterozygotes might maintain elevated iron indices during middle age, documented iron overload-related disease is rare.

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Title: HFEC282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity
Authors/Creators: L.C. Gurrin (Author/Creator) - The University of Melbourne
N.A. Bertalli (Author/Creator) - The University of Melbourne
G.W. Dalton (Author/Creator) - Services Australia
N.J. Osborne (Author/Creator) - The University of Melbourne
C.C. Constantine (Author/Creator) - The University of Melbourne
C.E. McLaren (Author/Creator) - University of California, Irvine
D.R. English (Author/Creator) - Cancer Council Victoria
D.M. Gertig (Author/Creator) - Victorian Cytology Service Inc., Melbourne, Australia
M.B. Delatycki (Author/Creator) - Royal Children's Hospital
A.J. Nicoll (Author/Creator) - The Royal Melbourne Hospital
M.C. Southey (Author/Creator) - The University of Melbourne
J.L. Hopper (Author/Creator) - The University of Melbourne
G.G. Giles (Author/Creator) - Cancer Council Victoria
G.J. Anderson (Author/Creator) - QIMR Berghofer Medical Research Institute
J.K. Olynyk (Author/Creator) - Fremantle Hospital
L.W. Powell (Author/Creator) - QIMR Berghofer Medical Research Institute
K.J. Allen (Author/Creator) - Murdoch Children's Research Institute
Publication Details: Hepatology, Vol.50(1), pp.94-101
Publisher: John Wiley & Sons Inc.
Identifiers: 991005544716107891
Copyright: © 2009 American Association for the Study of Liver Diseases
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.184 Physiology & Metals; 1.184.573 Iron Metabolism
Web Of Science research areas: Gastroenterology & Hepatology
ESI research areas: Clinical Medicine