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Article

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Annales de biologie clinique - 1 Jan 2000

Jouanolle Anne-Marie, Gérolami Victoria, Ged Cécile, Grandchamp Bernard, Le Gac Gérald, Pissard Serge, Rochette Jacques, Aguilar-Martinez Patricia

Abstract excerpt

HFE-related hemochromatosis (HFE hemochromatosis) or type 1 hemochromatosis is an autosomal recessive disease characterized by progressive iron overload usually expressed in adulthood. The HFE gene, located on the short arm of chromosome 6 (6p21.3), encodes a protein that plays a crucial role in iron metabolism by modulating hepcidin synthesis in the liver. Homozygosity for the p.Cys282Tyr mutation accounts for...

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Source

Identifiers

PMID: 22565179
DOI: 10.1684/abc.2012.0704

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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