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Article

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.

Haematologica - 1 Apr 2010

Le Gac Gérald, Congiu Rita, Gourlaouen Isabelle, Cau Milena, Férec Claude, Melis Maria Antonietta

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Share to Genetic Predisposition to Disease
Share to Hemochromatosis
Share to Hemochromatosis Protein
Share to Histocompatibility Antigens Class I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Membrane Proteins

Share to Sequence Deletion

Source

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Identifiers

PMID: 20007136
DOI: 10.3324/haematol.2009.016816
PMCID: PMC2857203

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia.PMID 20007136Read ↗

Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations.Semantic proximity Read ↗

Diagnosis and management of haemochromatosis since the discovery of the HFE gene: a European experience.Semantic proximity Read ↗

Hemochromatosis in a Lithuanian with HFE C282Y homozygosity and C282Y allele frequencies in the Baltic Sea region.Semantic proximity Read ↗

Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.Semantic proximity Read ↗

Unique frequencies of HFE gene variants in Roma/Gypsies.Semantic proximity Read ↗

HFE gene and hemochromatosis.Semantic proximity Read ↗

Hemoglobinopathies in Sardinia.Semantic proximity Read ↗

H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.Semantic proximity Read ↗

Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.Semantic proximity Read ↗

A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese originSemantic proximity Read ↗

HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania.Semantic proximity Read ↗

[Hereditary hemochromatosis associated with hypoceruloplasminemia with absence of mutations in the HFE gene]].Semantic proximity Read ↗

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