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Article

Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.

Human molecular genetics - 15 Jan 2002

Girouard Joël, Giguère Yves, Delage Robert, Rousseau François

Abstract excerpt

Hereditary hemochromatosis is a genetic disease characterized by exaggerated absorption of intestinal iron leading to its accumulation in some organs over the years. Its prevalence is estimated to be 3-5/1000 in Caucasians. A single mutation, C282Y in the HFE gene explains 80-90% of all diagnosed cases in populations of northwestern European ancestry. The importance of another frequent mutation in this gene,...

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Source

Identifiers

PMID: 11809727
DOI: 10.1093/hmg/11.2.185

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.PMID 11809727Read ↗

A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.Semantic proximity Read ↗

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Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?Semantic proximity Read ↗

HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes.Semantic proximity Read ↗

Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?Semantic proximity Read ↗

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).Semantic proximity Read ↗

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Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.Semantic proximity Read ↗

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