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Canadian Journal of Gastroenterology
Article . 2000 . Peer-reviewed
License: CC BY NC
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Canadian Journal of Gastroenterology
Article
License: CC BY
Data sources: UnpayWall
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UQ eSpace
Article . 2000
Data sources: UQ eSpace
UQ eSpace
Article . 2000
Data sources: UQ eSpace
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HFE-Associated Hereditary Haemochromatosis

Authors: Eijkelkamp, E. J.; Yapp, T. R.; Powell, L. W.;

HFE-Associated Hereditary Haemochromatosis

Abstract

Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led to rapid advances in the field of iron metabolism. Although the basic defect is still not fully understood, much is known about the sequence of events leading to iron overload.Hereditary hemochromatosis is a major candidate for population screening and meets the screening criteria of the World Health Organization, and Wilson and Jungner. It is one of the most prevalent genetic diseases in white populations, and, importantly, early diagnosis and simple effective treatment allow normal life expectancy.The discovery of theHFEgene and the frequency of the single C282Y mutation as a cause of most cases of hereditary hemochromatosis allow the possibility of widespread genetic testing. However, the logistics, and the psychological and social consequence of this, coupled with incomplete expression of the genotype, necessitate further studies before population screening can be justified.

Countries
Netherlands, Australia
Keywords

EXPRESSION, IDIOPATHIC HEMOCHROMATOSIS, Genotype, Iron, HLA-H, RC799-869, Global Health, HOMOZYGOUS HEMOCHROMATOSIS, HLA Antigens, HEPATOCELLULAR-CARCINOMA, Humans, Point Mutation, iron metabolism, Hemochromatosis Protein, C4, 321008 Haematology, Incidence, Histocompatibility Antigens Class I, LONG-TERM SURVIVAL, Membrane Proteins, Diseases of the digestive system. Gastroenterology, Iron metabolism, hereditary hemochromatosis, Prognosis, GENETIC HEMOCHROMATOSIS, HEPATIC IRON, BLOOD-DONORS, DISCOVERY, Hereditary hemochromatosis, HFE, Hemochromatosis, 730103 Blood disorders

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
13
Average
Top 10%
Top 10%
gold