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Article

Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

Gut - 1 Jun 2001

Aguilar-Martinez P, Bismuth M, Picot M C, Thelcide C, Pageaux G P, Blanc F, Blanc P, Schved J F, Larrey D

Abstract excerpt

BACKGROUND: First considered as a polymorphism of the HFE gene, the H63D mutation is now widely recognised as a haemochromatosis associated allele. But few H63D homozygotes with clinical manifestations of hereditary haemochromatosis (HH) have been reported. Concurrently, an increasing number of genes have been shown to interact with HFE in iron metabolism. AIMS: To describe the clinical expression of iron...

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Topics

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Share to Haplotypes
Share to Hemochromatosis
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron Overload

Share to Receptors, Transferrin

Share to Sequence Analysis, DNA

Share to Sex Factors

Share to Statistics, Nonparametric

Source

Open in PubMed Open full text

Identifiers

PMID: 11358905
DOI: 10.1136/gut.48.6.836
PMCID: PMC1728323

Genes

HFE
TFR2

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.

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Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?PMID 11358905Read ↗

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