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Article

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

Gene - 15 Oct 2012

Del-Castillo-Rueda Alejandro, Moreno-Carralero María-Isabel, Cuadrado-Grande Nuria, Alvarez-Sala-Walther Luis-Antonio, Enríquez-de-Salamanca Rafael, Méndez Manuel, Morán-Jiménez María-Josefa

Abstract excerpt

Hereditary hemochromatosis causes iron overload and is associated with a variety of genetic and phenotypic conditions. Early diagnosis is important so that effective treatment can be administered and the risk of tissue damage avoided. Most patients are homozygous for the c.845G>A (p.C282Y) mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Histocompatibility Antigens Class I

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Share to Receptors, Transferrin

Source

Identifiers

PMID: 22890139
DOI: 10.1016/j.gene.2012.07.069

Genes

HFE
TFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22890139-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.PMID 22890139Read ↗

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

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