Hemochromatosis with HFE gene mutation in a Japanese patient.
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.
Sohda
T
T
Third Department of Internal Medicine, School of Medicine, Fukuoka University, Japan.
Okubo
R
R
Kamimura
S
S
Ohkawara
T
T
D000368:Aged; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007564:Japan; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins