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...

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Bibliographic Details
Published in:Missouri medicine 2012-03, Vol.109 (2), p.133-136
Main Author: Bacon, Bruce R
Format: Article
Language:English
Subjects:
Hemochromatosis - genetics
Hemochromatosis - history
Hemochromatosis - pathology
Hemochromatosis Protein
Histocompatibility Antigens Class I - genetics
Histocompatibility Antigens Class I - history
History, 20th Century
Humans
Membrane Proteins - genetics
Membrane Proteins - history
Missouri
Science of Medicine
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Summary: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.
ISSN:0026-6620