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Article

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.

Blood cells, molecules & diseases - 1 Jan 2000

Biasiotto Giorgio, Roetto Antonella, Daraio Filomena, Polotti Anna, Gerardi Gian Mario, Girelli Domenico, Cremonesi Laura, Arosio Paolo, Camaschella Clara

Abstract excerpt

HFE-hemochromatosis is the most common form of hereditary hemochromatosis. The disorder is associated with the homozygous C282Y mutation and has variable phenotype, being modulated by environmental and genetic factors. Candidate modifier genes are hemojuvelin and hepcidin, which are responsible f...

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Source

Identifiers

PMID: 15528154
DOI: 10.1016/j.bcmd.2004.08.002

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15528154-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.PMID 15528154Read ↗

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