ArticleEuropean journal of pediatrics2003
Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation.
Article in European journal of pediatrics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 8 citations in OpenAlex.
- The C19S Substitution Enhances the Stability of Hepcidin While Conserving Its Biological Activity.The protein journal · 2018Article
- A child with hyperferritinemia: case report.Italian journal of pediatrics · 2011Article
- Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney.International journal of hematology · 2007Article
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8 authors at 2 institutions in 1 country.
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Abstract
unlabelledJuvenile or type2 hemochromatosis is a rare autosomal recessive disorder which leads to severe iron overload early in life. As in the classic adult form of the disease iron toxicity causes liver cirrhosis, cardiomyopathy, and endocrine complications, but the onset of the disease is anticipated in the second to third decades of life. Experience of this disease in children is limited. Molecular diagnosis is unfeasible because the type2 hemochromatosis gene is still unknown, although it is known that the disease locus maps to chromosome 1q. Combining linkage analysis with markers encompassing chromosome 1 locus and a non-invasive method for liver iron quantitation we diagnosed juvenile hemochromatosis in a presymptomatic stage in an 11-year-old Italian child. A regular phlebotomy protocol reduced iron overload preventing all the disease complications.
conclusionJuvenile hemochromatosis patients have severe iron overload within the first years of life, strengthening the greater iron absorption that occurs in this as compared to other types of hemochromatosis. Early detection is essential, because treatment in presymptomatic stages prevents organ damage.
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