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Article

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.

Annals of hepatology - 1 Jan 2000

Pelusi Serena, Rametta Raffaela, Della Corte Claudia, Congia Riccardo, Dongiovanni Paola, Pulixi Edoardo A, Fargion Silvia, Fracanzani Anna L, Nobili Valerio, Valenti Luca

Abstract excerpt

BACKGROUND & AIMS: Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characterized by severe early-onset iron overload, caused by mutations in hemojuvelin (HJV), hepcidin (HAMP), or a combination of genes regulating iron metabolism. Here we describe two JH cases associated with simple heterozygosity for novel HJV mutations and unknown genetic factors. Case 1: A 12 year-old male from Central...

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Source

Identifiers

PMID: 25152992

Genes

HJV
HAMP
HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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