The haemochromatosis gene: A global perspective and implications for the Asia-Pacific region

Mutations in the haemochromatosis (HFE) gene cause most of the cases of hereditary haemochromatosis among people of Northern European ancestry while remaining a rare cause of iron overload among indigenous persons of the Asia–Pacific region. Advances in understanding of the role of the HFE protein p...

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Bibliographic Details
Published in:Journal of gastroenterology and hepatology 1999-09, Vol.14 (9), p.838-843
Main Authors: Mortimore, Marianne, Merryweather-Clarke, Alison T, Robson, Kathryn Jh, Powell, Lawrie W
Format: Article
Language:English
Subjects:
Asia - epidemiology
Asian Continental Ancestry Group - genetics
Biological and medical sciences
Europe - epidemiology
European Continental Ancestry Group - genetics
Genes, MHC Class I
Genetic Testing
genetics
Global Health
haemochromatosis
Hemochromatosis - diagnosis
Hemochromatosis - epidemiology
Hemochromatosis - ethnology
Hemochromatosis - genetics
Hemochromatosis Protein
HFE
Histocompatibility Antigens Class I - genetics
HLA Antigens - genetics
Humans
Iron - metabolism
iron overload
Iron Overload - genetics
Medical sciences
Membrane Proteins
Metabolic diseases
metabolism
Metals (hemochromatosis...)
Mutation
Other metabolic disorders
Population Surveillance
Tropical medicine
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Summary:Mutations in the haemochromatosis (HFE) gene cause most of the cases of hereditary haemochromatosis among people of Northern European ancestry while remaining a rare cause of iron overload among indigenous persons of the Asia–Pacific region. Advances in understanding of the role of the HFE protein product and other recently cloned iron transporters signify an exciting period, as previously unknown components of the iron metabolism pathway are revealed one by one. Epidemiological studies have shown that this gene is more widespread than its phenotypic expression would suggest and that the heterozygous state may be implicated in the expression of other diseases of the liver such as porphyria cutanea tarda, hepatitis C virus infection and non‐alcoholic steatohepatitis. The diagnosis, management and ethical implications for clinical practice in the aftermath of this discovery are discussed.
ISSN:0815-9319
1440-1746
DOI:10.1046/j.1440-1746.1999.01980.x