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Article

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.

Blood - 15 Dec 2008

Le Gac Gérald, Gourlaouen Isabelle, Ronsin Christophe, Géromel Vanna, Bourgarit Anne, Parquet Nathalie, Quemener Sylvia, Le Maréchal Cédric, Chen Jian-Min, Férec Claude

Abstract excerpt

Hemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is carried by approximately 1 person in 200 in Northern European populations. However, p.C282Y homozygosity is often characterized by incomplete penetrance. Here, we describe the case of a woman who had a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18809761
DOI: 10.1182/blood-2008-07-167296

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18809761-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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