Hemochromatosis with HFE gene mutation in a Japanese patient

T Sohda; R Okubo; S Kamimura; T Ohkawara

doi:10.1111/j.1572-0241.2001.04058.x

Hemochromatosis with HFE gene mutation in a Japanese patient

Am J Gastroenterol. 2001 Aug;96(8):2487-8. doi: 10.1111/j.1572-0241.2001.04058.x.

Authors

T Sohda¹, R Okubo, S Kamimura, T Ohkawara

Affiliation

¹ Third Department of Internal Medicine, School of Medicine, Fukuoka University, Japan.

PMID: 11513196
DOI: 10.1111/j.1572-0241.2001.04058.x

Abstract

A case of hemochromatosis associated with HFE gene mutation has never been previously reported in a Japanese patient. A 65-yr-old Japanese woman presenting with primary hemochromatosis underwent HFE mutation analyses, which demonstrated a C282Y mutation, this being the definitive gene mutation of Caucasian hemochromatosis.

Publication types

Case Reports

MeSH terms

Aged
Female
HLA Antigens / genetics*
Hemochromatosis / genetics*
Hemochromatosis Protein
Histocompatibility Antigens Class I / genetics*
Humans
Japan
Membrane Proteins*
Mutation / genetics*

Substances

HFE protein, human
HLA Antigens
Hemochromatosis Protein
Histocompatibility Antigens Class I
Membrane Proteins