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Article

Genotyping as a diagnostic aid in genetic haemochromatosis.

Journal of gastroenterology and hepatology - 1 May 1999

Rossi E, Henderson S, Chin C Y, Olynyk J, Beilby J P, Reed W D, Jeffrey G P

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10355506
DOI: 10.1046/j.1440-1746.1999.01884.x

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotyping as a diagnostic aid in genetic haemochromatosis.PMID 10355506Read ↗

The significance of haemochromatosis gene mutations in the general population: implications for screening.Semantic proximity Read ↗

HFE genotype in patients with hemochromatosis and other liver diseases.Semantic proximity Read ↗

DNA testing for haemochromatosis: diagnostic, predictive and screening implications.Semantic proximity Read ↗

HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis.Semantic proximity Read ↗

Clinical utility and outcome of HFE-genotyping in the search for hereditary hemochromatosis.Semantic proximity Read ↗

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.Semantic proximity Read ↗

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods.Semantic proximity Read ↗

Haemochromatosis-associated HFE genotypes in English blood donors: age-related frequency and biochemical expression.Semantic proximity Read ↗

Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.Semantic proximity Read ↗

A simple genetic test identifies 90% of UK patients with haemochromatosis. The UK Haemochromatosis Consortium.Semantic proximity Read ↗

HFE Mutations as risk factors in disease.Semantic proximity Read ↗

HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.Semantic proximity Read ↗

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