Hemochromatosis: discovery of the HFE gene.
Author:
- 9 June 2012
- journal article
- review article
- Vol. 109 (2) , 133-6
Abstract
Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism affecting about 1 in 250 individuals. HH results in an increased absorption of iron at the baso-lateral surface of the enterocyte with aberrant regulation of ferroportin-mediated transfer of iron in turn brought on by a decrease in circulating hepcidin. The medical literature describes a colorful history of HH with important contributions from faculty at Saint Louis University.Keywords
This publication has 7 references indexed in Scilit:
- Iron Overload in Human DiseaseNew England Journal of Medicine, 2012
- Orchestration of Iron HomeostasisNew England Journal of Medicine, 2005
- Genetic Hemochromatosis, a Celtic Disease: Is It Now Time for Population Screening?Genetic Testing, 2001
- A Population-Based Study of the Clinical Expression of the Hemochromatosis GeneNew England Journal of Medicine, 1999
- Molecular medicine and hemochromatosis: At the crossroadsGastroenterology, 1999
- A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosisNature Genetics, 1996
- Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.Gut, 1976