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Article

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

Blood - 15 Jun 2004

Lee Pauline L, Beutler Ernest, Rao Sreenivas V, Barton James C

Abstract excerpt

Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest that it be...

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Source

Identifiers

PMID: 14982867
DOI: 10.1182/blood-2004-01-0072

Genes

HJV
HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.PMID 14982867Read ↗

Hemojuvelin (<i>HJV</i>) mutations in persons of European, African‐American and Asian ancestry with adult onset haemochromatosisSemantic proximity Read ↗

Hemojuvelin (HJV)-associated hemochromatosis: analysis of HJV and HFE mutations and iron overload in three families.Semantic proximity Read ↗

Identification of a novel mutation (C321X) in HJV.Semantic proximity Read ↗

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

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

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

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.Semantic proximity Read ↗

Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes.Semantic proximity Read ↗

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

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

Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.Semantic proximity Read ↗

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