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Article

The role of HFE mutations on iron metabolism in beta-thalassemia carriers.

Journal of human genetics - 1 Jan 2004

Martins Rute, Picanço Isabel, Fonseca Aidil, Ferreira Lídia, Rodrigues Odete, Coelho Marília, Seixas Teresa, Miranda Armandina, Nunes Baltazar, Costa Luciana, Romão Luísa, Faustino Paula

Abstract excerpt

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and progressive storage resulting in organ damage. HFE gene mutations C282Y and H63D are responsible for the majority of HH cases. A third HFE mutation, S65C, has been associated with the development of a mild form of hemochromatosis. The beta-thalassemia trait is characterized by mild,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15538648
DOI: 10.1007/s10038-004-0202-z

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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