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...

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Bibliographic Details
Published inJournal of clinical gastroenterology Vol. 33; no. 1; p. 69
Main Authors Kng, C, Ng, F H, Ng, W F, Wong, B C, Grosso, L E, Brunt, E M, Bacon, B R
Format Journal Article
LanguageEnglish
Published United States 01.07.2001
Subjects
Aged
Biopsy
Diagnosis, Differential
DNA Mutational Analysis
Female
Hemochromatosis - genetics
Hemochromatosis - pathology
Hemochromatosis Protein
Histocompatibility Antigens Class I - genetics
HLA Antigens - genetics
Hong Kong
Humans
Liver - pathology
Membrane Proteins
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Summary: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.
ISSN:0192-0790
DOI:10.1097/00004836-200107000-00017