Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Idiopathic Hemochromatosis with the Mutation of Alal76Val Heterozygous for HFE Gene
Hiroyasu IMANISHIWeidong LiuJidong CHENGNaoto IKEDAYoshiki AMUROToshikazu HADA
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2001 Volume 40 Issue 6 Pages 479-483

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Abstract

Most patients with hereditary hemochromatosis are homozygous for C282Y in the 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 patient was recently diagnosed with idiopathic hemochromatosis. Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygous nucleotide substitution at nucleotide 527 from C to T, which resulted in A176V amino acid substitution. Another mutation at nucleotide 942 from T to C was observed, but this was a nonsense mutation. C282Y and another mutation, H63D, were not found in the patient. The mutation may have a possible role on the cause of hemochromatosis in this Japanese case.
(Internal Medicine 40: 479-483, 2001)

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© The Japanese Society of Internal Medicine
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