Hereditary haemochromatosis: Diagnosis and management

Australian Family Physician

Volumn 39, Issue 12, 2010, Pages 938-941

  Allen, Katie ^a,b  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Genetics; Haemochromatosis; Liver diseases

Indexed keywords

ARTICLE; GENERAL PRACTICE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEMOCHROMATOSIS; HUMAN;

FAMILY PRACTICE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEMOCHROMATOSIS; HUMANS;

EID: 78650243702     PISSN: 03008495     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Feder JN, Gnirke A, Thomas W, et al. Anovel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
2. Allen KJ, Gurrin L C, Osborne N J, et al. I ron-overloadrelated disease in HFE hereditary hemochromatosis. N Engl J M ed 2008;358:221-30.
3. Pietrangelo A. Hereditary hemochromatosis. Ann Rev Nutr 2006;26:251-70.
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8. The Australia and New Zealand Liver Transplant Registry 20th report. Available at www.anzltr.org/thisYear/report.pdf.
9. Delatycki MB, Powell L W, Allen KJ. Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age? Genet Test 2004;8:98-103.
10. Gurrin L C, Bertalli N A, Dalton GW, et al. HealthIron Study Investigators. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosisrelated morbidity. Hepatology 2009;50:94-101.
11. Allen KJ, Gurrin L C, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J M ed 2008;358:221-30.
12. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J M ed 2005;352:1769-78.
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14. Adams PC, Barton JC. How I treat hemochromatosis. Blood 2010;116:317-25. Epub 2010 Mar 22.
15. Allen KJ, Bertalli N A, Osborne N J, et al. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. Hepatology 2010;52:925-33.
16. Allen KJ, Bertalli N A, Osborne N J, et al. for the HealthIron Study Investigators. HFE-C282Y homozygotes with elevated SF less than 1000 μg/L are not at increased risk of iron overload-related clinical features. Hepatology 2010; in press.