Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous forHFE gene

Most patients with hereditary hemochromatosis are homozygous for C282Y in t he HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity. A 48-year-old Japanese p atient was recently diagnosed with idiopathic hemochromatosis, Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygo us nucleotide substitution at nucleotide 527 from C to T, which resulted in A176V amino acid substitution. Another mutation at nucleotide 942 from T t o C was observed, but this was a nonsense mutation. C282Y and another mutat ion, H63D, were not found in the patient. The mutation may have a possible role on the cause of hemochromatosis in this Japanese case.