A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron

Mutations of hepcidin are a rare cause of juvenile hemochromatosis (JH). We report a homozygous -25G>A mutation in the hepcidin 5′ untranslated region (UTR) that generates a new start codon with a consequent frameshift. In this patient with a rare coincidental association of JH, Turner syndrome,