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Article

Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y.

Journal of hepatology - 1 Apr 2002

Wallace Daniel F, Walker Ann P, Pietrangelo Antonello, Clare Michael, Bomford Adrian B, Dixon Jeannette L, Powell Lawrie W, Subramaniam V Nathan, Dooley James S

Abstract excerpt

BACKGROUND/AIMS: HFE-related haemochromatosis is a common disorder of iron metabolism. Most affected individuals are homozygous for the C282Y mutation of HFE. Some are compound heterozygotes for C282Y/H63D. A small proportion have neither of these genotypes. We have investigated the phenotype of compound heterozygotes for C282Y and another missense mutation S65C. METHODS: Genotype for the S65C mutation was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11943417
DOI: 10.1016/s0168-8278(01)00304-x

Genes

HFE

Variants

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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Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y.PMID 11943417Read ↗

C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related DiseaseSemantic proximity Read ↗

Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes.Semantic proximity Read ↗

Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controlsSemantic proximity Read ↗

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

Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients.Semantic proximity Read ↗

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity # †Semantic proximity Read ↗

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.Semantic proximity Read ↗

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.Semantic proximity Read ↗

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.Semantic proximity Read ↗

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