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The HJV gene encodes an important regulator of the iron metabolism, hemojuvelin. It functions upstream of hepcidin regulating its expression. Therefore mutations cause a similar phenotype of juvenile hemochromatosis. This time autosomal recessive.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hemochromatosis 2a



Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

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Lenoir A et al. (2011) Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.

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Huang FW et al. (2005) A mouse model of juvenile hemochromatosis.

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Niederkofler V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload.

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Huang FW et al. (2004) Identification of a novel mutation (C321X) in HJV.

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Lee PL et al. (2004) Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

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Barton JC et al. () Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.

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Andriopoulos B et al. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.

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Babitt JL et al. (2007) Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance.

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Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.

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Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

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Murugan RC et al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.

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Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.

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Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

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Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

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Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

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Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

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Orphanet article

Orphanet ID 123414 external link

NCBI article

NCBI 148738 external link

OMIM.ORG article

Omim 608374 external link

Wikipedia article

Wikipedia EN (Hemojuvelin) external link
Update: Aug. 14, 2020
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