Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis

Wood, M.J., Powell, L.W. and Ramm, G. A. (2008) Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis. Blood, 111 9: 4456-4462. doi:10.1182/blood-2007-11-122374


Author Wood, M.J.
Powell, L.W.
Ramm, G. A.
Title Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis
Journal name Blood   Check publisher's open access policy
ISSN 0006-4971
Publication date 2008-05-01
Year available 2008
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1182/blood-2007-11-122374
Open Access Status Not yet assessed
Volume 111
Issue 9
Start page 4456
End page 4462
Total pages 7
Editor Shattil, S.J.
Place of publication United States
Publisher American Society of Hematology
Language eng
Subject C1
920101 Blood Disorders
110202 Haematology
Abstract Hereditary hemochromatosis is a genetic disorder of iron metabolism leading to inappropriate iron absorption and iron loading in various organs especially the liver. Despite the genetic mutation being relatively common in those of Anglo Celtic descent, cirrhosis of the liver occurs in only a small proportion of affected individuals. The risk of hepatic fibrosis and cirrhosis relates to the degree of iron loading with threshold hepatic iron concentrations being identified from population studies. However, other environmental and possibly genetic factors appear to modify this risk. Excess alcohol consumption appears to be one of the most important cofactors with steatosis and coexistent viral infection also implicated. Genetic polymorphisms in genes associated with fibrogenesis, antioxidant activity, and inflammation have been investigated in several different forms of chronic liver disease. The variability in the expression of these genes that predispose patients with hemochromatosis to increased risk of severe liver disease is the subject of ongoing investigations. Clearly the progression of iron loading to cirrhosis marks a crucial stage in the natural history of a patient's disease and therefore therapy and prognosis. This review explores recent developments in knowledge of environmental and genetic modifiers of this process.
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: 2009 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Thu, 16 Apr 2009, 22:25:28 EST by Amanda Jones on behalf of Royal Brisbane Clinical School