Journal article
Screening for HFE and iron overload
Seminars in Liver Disease, Vol.25(4), pp.402-410
2005
Abstract
Type 1 hereditary hemochromatosis is a common disorder of iron overload occurring in individuals homozygous for the C282Y HFE gene mutation. It can be a progressive and fatal condition. Early detection and phlebotomy prior to the onset of cirrhosis can reduce morbidity and normalize life expectancy. It is readily identified through biochemical testing for iron overload using serum transferrin saturation and genetic testing for C282Y homozygosity. General population screening has been waived in preference to targeting high-risk groups such as first-degree relatives of affected individuals and those with clinical features suggestive of iron loading. This screening strategy is likely to continue until uncertainties regarding the natural history of the disease, age-related penetrance, and management of asymptomatic individuals are clarified. Potential ethical, legal, and psychosocial issues arising through application of genetic screening programs also must be resolved prior to implementation of general population screening programs.
Details
- Title
- Screening for HFE and iron overload
- Authors/Creators
- J. Ombiga (Author/Creator)L.A. Adams (Author/Creator)K. Tang (Author/Creator)D. Trinder (Author/Creator)J.K. Olynyk (Author/Creator)
- Publication Details
- Seminars in Liver Disease, Vol.25(4), pp.402-410
- Publisher
- Thieme Medical Publishers
- Identifiers
- 991005545444607891
- Copyright
- © 2005 by Thieme Medical Publishers, Inc
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic 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