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Article

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.

Blood - 1 Oct 2004

Matthes Thomas, Aguilar-Martinez Patricia, Pizzi-Bosman Loredana, Darbellay Régis, Rubbia-Brandt Laura, Giostra Emilio, Michel Martine, Ganz Tomas, Beris Photis

Abstract excerpt

Juvenile hereditary hemochromatosis is a genetically heterogeneous disorder transmitted as an autosomal recessive trait. It is most often caused by mutations in the HJV gene and rarely in the HAMP gene. Hepcidin is considered to constitute a negative regulator of iron absorption, and its production is increased in inflammatory states and iron overload. We report the detection of a new mutation in the HAMP gene...

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Source

Identifiers

PMID: 15198949
DOI: 10.1182/blood-2004-01-0332

Genes

HAMP
HJV

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→

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Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.PMID 15198949Read ↗

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.Semantic proximity Read ↗

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Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.Semantic proximity Read ↗

HJV gene mutations in European patients with juvenile hemochromatosisSemantic proximity Read ↗

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.Semantic proximity Read ↗

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.Semantic proximity Read ↗

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.Semantic proximity Read ↗

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

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