Clinicopathological diagnosis and treatment of juvenile hemochromatosis

To the Editor:Hereditary hemochromatosis(HH)is a lateonset autonomic disease characterized by enhanced intestinal absorption of iron and iron overload,which may lead to liver cirrhosis,cardiomyopathy,diabetes,arthritis,and skin pigmentation.In 1996,Feder et al[1]cloned the gene responsible for HH(HFE)and reported that 85%of HH patients were homozygous for the C282Y mutation in the HFE gene.This was subsequently termed type 1 HH.Other inherited forms of HH exist that are non HFE-related,an example of which is juvenile hemochromatosis(JH);two genotypes that induce JH have been reported thus far.One JH genotype involves the hemojuvelin gene(HJV),which was cloned from a Greek family with JH by Papanikolaou et al[2]and is known as type 2A HH.The other involves the human antimicrobial peptide(HAMP)gene,which encodes hepcidin and is termed type 2B HH.