Journal article
Genotyping as a diagnostic aid in genetic haemochromatosis
Journal of Gastroenterology and Hepatology, Vol.14(5), pp.427-430
2002
Abstract
Background: Two mutations in a newly described gene, HFE, have been proposed as genetic markers for the inherited iron overload disease, genetic haemochromatosis.
Methods: We assessed the frequency of both mutations in a cohort of genetic haemochromatosis patients and compared these with a control population. The patients were genetic haemochromatosis patients from Western Australia whose diagnosis met strict criteria for phenotypic expression. Control patients had other liver disease where iron overload was excluded.
Results: Genomic DNA of 72 genetic haemochromatosis patients and 69 controls was examined for the C282Y and H63D mutations of the HFE gene using polymerase chain reaction amplification and restriction enzyme digestion. In genetic haemochromatosis patients, the C282Y mutation was homozygous in 64 of 72, giving a sensitivity of 89% (95% confidence interval 82–96%), heterozygous in five (7%) and absent in another three (4%), whereas none of the control subjects were homozygous. The H63D mutation was present in one genetic haemochromatosis patient and was not useful as a diagnostic marker. In this cohort of Western Australian patients with phenotypic expression of genetic haemochromatosis, the specificity of a homozygous C282Y mutation for genetic haemochromatosis was 100%.
Conclusions: The results indicate that genotyping for the C282Y mutation is a useful test for the diagnosis of genetic haemochromatosis in clinical practice.
Details
- Title
- Genotyping as a diagnostic aid in genetic haemochromatosis
- Authors/Creators
- E. Rossi (Author/Creator) - Queen Elizabeth II Medical CentreS. Henderson (Author/Creator) - The University of Western AustraliaC. Chin (Author/Creator) - Queen Elizabeth II Jubilee HospitalJ. Olynyk (Author/Creator) - Fremantle HospitalJ. Beilby (Author/Creator) - Queen Elizabeth II Jubilee HospitalW. Reed (Author/Creator) - The University of Western AustraliaG. Jeffrey (Author/Creator) - The University of Western Australia
- Publication Details
- Journal of Gastroenterology and Hepatology, Vol.14(5), pp.427-430
- Publisher
- Wiley-Blackwell
- Identifiers
- 991005541057907891
- Copyright
- © 1999 Blackwell Science Asia Pty Ltd
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
32 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.184 Physiology & Metals
- 1.184.573 Iron Metabolism
- Web Of Science research areas
- Gastroenterology & Hepatology
- ESI research areas
- Clinical Medicine