The diagnosis and management of hereditary haemochromatosis

Clark, Paul, Britton, Laurence J. and Powell, Lawrie W. (2010) The diagnosis and management of hereditary haemochromatosis. Clinical Biochemist Reviews, 31 1: 3-8.


Author Clark, Paul
Britton, Laurence J.
Powell, Lawrie W.
Title The diagnosis and management of hereditary haemochromatosis
Journal name Clinical Biochemist Reviews   Check publisher's open access policy
ISSN 0159-8090
1838-0212
Publication date 2010-02
Sub-type Article (original research)
Open Access Status
Volume 31
Issue 1
Start page 3
End page 8
Total pages 6
Place of publication Mt. Lawley, WA, Australia
Publisher Australasian Association of Clinical Biochemists
Language eng
Formatted abstract
Hereditary haemochromatosis (HH) is a common genetic disorder of iron metabolism in individuals of Northern European ancestry which leads to inappropriate iron absorption from the intestine and iron overload in susceptible individuals. Iron overload is suggested by elevations in serum ferritin and transferrin saturation. The majority of patients with clinically significant iron overload are homozygous for the C282Y mutation of the HFE gene, however only a minority of C282Y homozygotes fully express the disease clinically. Those with a high serum ferritin (>1000 μg/L) and additional hepatic insults from cofactors are more likely to develop cirrhosis and its complications. The mainstay of treatment is venesection. Those without cirrhosis who undergo appropriate venesection have a normal life expectancy. Family screening is recommended for all first degree relatives of an individual with the disease. 
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Thu, 17 Jul 2014, 09:14:53 EST by Anthony Yeates on behalf of School of Medicine