Letters to the Editor

Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis We describe a point mutation creating an addi-tional ATG codon in the 5 ’ untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation ini-tiation of the pre-hepcidin mRNA. Haematologica 2007; 92:127-128 Juvenile hemochromatosis is the result of mutations affecting hepcidin or hemojuvenil genes.1,2 Recently we found, in two members of a Portuguese family, that juve-nile hemochromatosis was associated with a G→A poin