A Chinese patient with non-HFE-linked iron overload.
The gene for hemochromatosis (HFE) was recently identified and contains two missense mutations: C282Y and H63D. The C282Y mutation is found homozygous in approximately 85% to 90% of patients of Northern European ancestry with hereditary hemochromatosis. There are no previous reports with results of genetic testing in Chinese patients with regard to iron overload. In this case report, we describe a Chinese woman with marked hepatic iron overload that was nonfamilial, with unusual biopsy findings, in whom neither the C282Y nor the H63D mutations in HFE were found.
Kng
C
C
Department of Medicine, Ruttonjee Hospital, Hong Kong, SAR.
Ng
F H
FH
Ng
W F
WF
Wong
B C
BC
Grosso
L E
LE
Brunt
E M
EM
Bacon
B R
BR
D000368:Aged; D001706:Biopsy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D008099:Liver / Q000473:pathology; D008565:Membrane Proteins
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins