Abstract
Juvenile Hemochromatosis (JH) is a rare recessive disorder of iron metabolism which leads to early-onset, severe iron overload. As compared to HFE-associated hemochromatosis (HH),1,2 JH presents specific features: it affects equally both sexes and it is characterized by a prevalence of hypogonadism and heart failure. Also, the clinical picture is extremely severe and death can occur for cardiac complications if patients are not intensively treated by phlebotomies (for review see reference 3). Genetic evidence indicates that JH is a disorder distinct from the more widespread HH. JH patients do not have mutations in the HFE gene (4, Cazzola M. and Cox T., personal communications), even after screening of all the coding region of the gene.4 These patients have unusual HLA-A haplotypes.4–5 The possibility of a second gene on chromosome 6p has been ruled out, since linkage to the interval of chromosome 6p, where the HFE gene resides,6 has been excluded in Italian families.4 The disorder seems more frequent in Italy (4,5 and unpublished data), where HFE related hemochromatosis is less frequent than in Northern Europe.7
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Camaschella, C. et al. (1999). Juvenile Hemochromatosis. In: Abraham, N.G., Tabilio, A., Martelli, M., Asano, S., Donfrancesco, A. (eds) Molecular Biology of Hematopoiesis 6. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4797-6_45
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DOI: https://doi.org/10.1007/978-1-4615-4797-6_45
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