Juvenile hemochromatosis

Juvenile Hemochromatosis. Juvenile hemochromatosis is a rare disorder that resembles hereditary hemochromatosis clinically, but that has a much earlier average age of onset and a greater tendency to develop endocrine and cardiac manifestations than does hereditary hemochromatosis. It too is inherited, although the mutation is not in the HFE gene, but rather in an as-yet-unidentified gene on chromosome lq or in hepcidin. ... 

GireUi D, Christakis J, et al. Mutant antimicrobial peptide hepddin is associated with severe juvenile hemochromatosis. Nature Genet 2003 33 21-2,... 

Roetto A, Totaro A, Cazzola M, Cicilano M, Bosio S, D Ascola G, et al. Juvenile hemochromatosis locus maps to chromosome Iq. Am J Hum Genet 1999 64 1388 93. 

Juvenile hemochromatosis (HH type 2) has clinical features similar to those of type 1, but the clinical course is more severe and characterized by an earlier onset (below 30 years of age). It presents with abdominal pain in the 1 decade of life, and later with cardiac symptoms and endocrine dysfunction. This autosomal recessive disease is rare. The gene has been localised to chromosome Iq and is genetically distinct from HH type 1 [24]. 

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