Hemochromatosis in Ireland and HFE
โ 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
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
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
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