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Article

HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.

Blood - 1 Apr 2004

Jacolot Sandrine, Le Gac Gerald, Scotet Virginie, Quere Isabelle, Mura Catherine, Ferec Claude

Abstract excerpt

Hereditary hemochromatosis is a genetically heterogeneous disease of iron metabolism. The most common form of the disorder is an adult-onset form that has mainly been associated with the HFE pC282Y/pC282Y genotype. The phenotypic expression of this genotype is very heterogeneous and could be modulated by both environmental factors and modifier genes. The non-HFE hereditary hemochromatosis forms include a juvenile...

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Source

Identifiers

PMID: 14670915
DOI: 10.1182/blood-2003-10-3366

Genes

HAMP
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.

Related research

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HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.PMID 14670915Read ↗

Modifying factors of the HFE hemochromatosis phenotype.Semantic proximity Read ↗

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.Semantic proximity Read ↗

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.Semantic proximity Read ↗

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.Semantic proximity Read ↗

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.Semantic proximity Read ↗

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene.Semantic proximity Read ↗

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.Semantic proximity Read ↗

HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative disease.Semantic proximity Read ↗

[Molecular basis in hereditary haemochromatosis].Semantic proximity Read ↗

CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.Semantic proximity Read ↗

HIF1A: A Putative Modifier of Hemochromatosis.Semantic proximity Read ↗

Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey.Semantic proximity Read ↗

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