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Article

DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.

Blood cells, molecules & diseases - 1 Jan 2000

Kelleher Thomas, Ryan Eleanor, Barrett Sharon, O'Keane Conor, Crowe John

Abstract excerpt

BACKGROUND/AIMS: Homozygosity for a cysteine to tyrosine translocation at position 282 within the HFE gene (C282Y) is responsible for over 90% of hereditary hemochromatosis (HH) in Celtic populations. Determining those C282Y homozygotes at greatest risk for iron overload is a major clinical concern as only a small percentage will develop clinically significant iron overload. Divalent metal transport protein...

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Source

Identifiers

PMID: 15223008
DOI: 10.1016/j.bcmd.2004.04.005

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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DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.PMID 15223008Read ↗

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading.Semantic proximity Read ↗

Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.Semantic proximity Read ↗

HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overloadSemantic proximity Read ↗

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Transforming growth factor-β and toll-like receptor-4 polymorphisms are not associated with fibrosis in haemochromatosis.Semantic proximity Read ↗

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Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?Semantic proximity Read ↗

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The penetrance of hereditary hemochromatosis.Semantic proximity Read ↗

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