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Article

Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.

Journal of gastroenterology and hepatology - 1 Mar 2005

Gonzalez-Hevilla Mario, de Salamanca Rafael E, Morales Pablo, Martínez-Laso Jorge, Fontanellas Antonio, Castro Maria José, Rojo Ricardo, Moscoso Juan, Zamora Jorge, Serrano-Vela Juan Ignacio, Arnaiz-Villena Antonio

Abstract excerpt

BACKGROUND AND AIMS: It has been postulated that the HFE C282Y mutation (linked to human leukocyte antigen [HLA]-A3-B7 haplotype) is not only responsible for hereditary hemochromatosis; HLA class I alleles would also contribute to the disease pathogenesis. In addition, H63D mutation linked to HLA-A29-B44 would also be pathogenetic, particularly in the Mediterranean Basin and throughout the world. However,...

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Share to Antibodies, Monoclonal
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

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Share to Polymorphism, Restriction Fragment Length

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Source

Identifiers

PMID: 15740492
DOI: 10.1111/j.1440-1746.2005.03553.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.

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Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.PMID 15740492Read ↗

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