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Article

The significance of haemochromatosis gene mutations in the general population: implications for screening.

Gut - 1 Dec 1998

Burt M J, George P M, Upton J D, Collett J A, Frampton C M, Chapman T M, Walmsley T A, Chapman B A

Abstract excerpt

BACKGROUND: Haemochromatosis is associated with mutations in the HFE gene but the significance of these mutations in the general population is unknown. AIMS: To determine the frequency of HFE gene mutations in the general population, their effect on serum iron indexes, and their role in screening for haemochromatosis. METHODS: Deoxyribonucleic acid (DNA) from 1064 randomly selected subjects was analysed for the...

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Source

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Identifiers

PMID: 9824612
DOI: 10.1136/gut.43.6.830
PMCID: PMC1727339

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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The significance of haemochromatosis gene mutations in the general population: implications for screening.PMID 9824612Read ↗

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HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology.Semantic proximity Read ↗

Genotyping as a diagnostic aid in genetic haemochromatosis.Semantic proximity Read ↗

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

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

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

A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism.Semantic proximity Read ↗

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.Semantic proximity Read ↗

HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L.Semantic proximity Read ↗

Hereditary hemochromatosis since discovery of the HFE gene.Semantic proximity Read ↗

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