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Article

A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D.

Blood cells, molecules & diseases - 1 Jan 2000

Lucotte G, Champenois T, Sémonin O

Abstract excerpt

We describe a woman, found as part of a screening study on cases of elevated transferrin saturation values in France, who was heterozygous for the C282Y mutation and at the same time homozygous for the H63D mutation in the HFE gene. Our description includes two other recently described patients presenting the symmetrical genotypic statement (homozygous for the C282Y mutation and heterozygous for the H63D...

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Source

Identifiers

PMID: 11783952
DOI: 10.1006/bcmd.2001.0451

Genes

HFE

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D.PMID 11783952Read ↗

Hemochromatosis mutations C282Y and H63D in 'cis' phase.Semantic proximity Read ↗

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria.Semantic proximity Read ↗

Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin.Semantic proximity Read ↗

Detection of an unusual combination of mutations in the HFE gene for hemochromatosis.Semantic proximity Read ↗

Phenotypic expression in detected C282Y homozygous women depends on body mass index.Semantic proximity Read ↗

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?Semantic proximity Read ↗

Frequency analysis and allele map in favor of the celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

Hypogonadism and reduced bone mineral density in heterozygous H63D mutation in the HFE gene: an unusual presentation of hereditary hemochromatosis.Semantic proximity Read ↗

Low serum transferrin levels in HFE C282Y homozygous subjects are associated with low CD8(+) T lymphocyte numbers.Semantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

[The prioritisation of genetic screening with primary haemochromatosis as an example].Semantic proximity Read ↗

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