juvenile hemochromatosis


Also found in: Acronyms.

juvenile hemochromatosis

an autosomal recessive disorder [MIM*602390] with one form mapped to 1q and another resulting from a mutation in the gene HAMP that encodes hepcidin, an antimicrobial peptide, on chromosome 19q13.

haemochromatosis type 2

An uncommon condition of juvenile onset, described in several Italian families, which clinically mimics classic haemochromatosis, but at an accelerated pace; patients more commonly present with cardiomyopathy or endocrinopathy than with severe liver disease, and often die by age 30 of heart failure.

juvenile hemochromatosis

,

JH

An autosomal recessive disorder of iron metabolism in which excessive iron storage results in hypogonadism, cardiomyopathy, cirrhosis, and joint disease in individuals before the age of 30. Patients with juvenile hemochromatosis do not have mutations in the HFE protein, the protein responsible for hemochromatosis in adults. The mutation in juvenile hemochromatosis is found on chromosome 1.
References in periodicals archive ?
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
[9] Nonstandard abbreviations: HH, hereditary hemochromatosis; JH, juvenile hemochromatosis; HF, hereditary hyperferritinemia; HHCS, hereditary hyperferritinemia cataract syndrome; UTR, untranslated region; SCAIP, single-condition amplification with internal primer; TS, transferrin saturation; SCA, single-condition amplification.
Juvenile hemochromatosis presents at a younger age, often before the age of 30, with no sex predilection.
The sequencing of the genes encoding hemojuvelin and hepcidin will serve as confirmatory tests in the diagnosis of cases of suspected juvenile hemochromatosis. In addition to confirming that these different subtypes of hemochromatosis are distinct entities, the recent studies reviewed here provide a molecular basis for their classification, a distinction that was previously made on clinical grounds alone.
The most common gene causing juvenile hemochromatosis was recently identified, mapping to the pericentromeric region of the long arm of chromosome 1 (Table 2) (16).
The first gene identified in juvenile hemochromatosis was hepcidin antimicrobial peptide (HAMP), which encodes hepcidin.
Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1821.

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