What's new in hemochromatosis

Gochee, Peter A. and Powell, Lawrie W. (2001) What's new in hemochromatosis. Current Opinion In Hematology, 8 2: 98-104. doi:10.1097/00062752-200103000-00007

Author Gochee, Peter A.
Powell, Lawrie W.
Title What's new in hemochromatosis
Journal name Current Opinion In Hematology   Check publisher's open access policy
ISSN 1065-6251
Publication date 2001
Sub-type Article (original research)
DOI 10.1097/00062752-200103000-00007
Volume 8
Issue 2
Start page 98
End page 104
Total pages 7
Place of publication Philadelphia, PA, U.S.A.
Publisher Lippincott Williams & Wilkins
Collection year 2001
Language eng
Subject CX
320301 Clinical Chemistry
730103 Blood disorders
Abstract Hereditary hemochromatosis (HHC) is an inherited disorder of iron metabolism affecting approximately 1 in 200-300 individuals of Northern European descent. Over time, the continued deposition of iron in parenchymal cells of many organs can eventually lead to diabetes mellitus, cardiomyopathy, and hepatic cirrhosis, the last of which is frequently followed by hepatocellular carcinoma. Although the complications of HHC can be devastating, its clinical management is simple and effective if the disease is identified early in its progression. The recent elucidation of the HFE gene has provided insight into the pathogenesis of HHC and provided a means for the early identification of individuals in whom HHC may develop. Two mutations have been implicated in HHC: C282Y and H63D, The former occurs in a homozygous state seen in 75-100% of patients with HHC. The high correlation of HFE to HHC has caused it to be considered as a candidate gene for population-based genetic testing for diagnosis and detection of predisposition to HHC. In addition, mechanisms of iron transport and metabolism are unfolding and are providing clues to the enigma of iron homeostasis and the pathophysiology of iron overload, (C) 2001 Lippincott Williams & Wilkins, Inc.
Keyword Hematology
C282y Homozygous Hemochromatosis
Cell-surface Expression
Voluntary Blood-donors
Hereditary Hemochromatosis
Genetic Hemochromatosis
Transferrin Receptor
Hepatic Iron
Hfe Gene
Q-Index Code CX

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Biomedical Sciences Publications
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Created: Tue, 14 Aug 2007, 16:38:31 EST