Hemochromatosis: discovery of the HFE gene.
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.
Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, USA. baconbr@slu.edu
Bruce R
BR
Bacon
D006432:Hemochromatosis / Q000235:genetics / Q000266:history* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000266:history*; D008923:Missouri
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins