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Article

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

Human molecular genetics - 1 Sept 2004

Le Gac Gérald, Scotet Virginie, Ka Chandran, Gourlaouen Isabelle, Bryckaert Laurence, Jacolot Sandrine, Mura Catherine, Férec Claude

Abstract excerpt

The most common form of hereditary haemochromatosis is an adult-onset condition usually associated with the HFE C282Y/C282Y genotype. The phenotypic expression of this genotype is heterogeneous and depends on a complex interplay of genetic and non-genetic factors. The aim of the present study was to determine if mutations in the recently identified HJV gene were associated with more severe iron overload...

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Source

Identifiers

PMID: 15254010
DOI: 10.1093/hmg/ddh206

Genes

HJV
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.

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The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.PMID 15254010Read ↗

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