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Hemochromatosis in Ireland and HFE

โœ Scribed by Eleanor Ryan; Conor O'Keane; John Crowe


Book ID
115589951
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
52 KB
Volume
24
Category
Article
ISSN
1079-9796

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he term 'hemochromatosis' refers to an autosomal recessive disorder of iron metabolism associated with two mutant alleles of the HFE gene (usually leading to a Cys282Tyr mutation in the gene product) and characterized by a slow and progressive increase in plasma iron content, which, in adults, may l

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Following the discovery of the HFE gene in 1996 and its linkage to the iron overload disorder hereditary hemochromatosis (HH) there have been profound developments in our understanding of the pathogenesis of the biochemical and clinical manifestations of a number of iron overload disorders. This art

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There has been much interest in screening populations for disease-associated mutations. A favored candidate has been the HFE gene, mutations of which are the most common cause of hemochromatosis in the European population. About five people in 1000 are homozygotes for the 845G3 A mutation, but littl