A Chinese patient with non-HFE-linked iron overload

Carolyn Kng, Fook Hong Ng, Wing Fung Ng, Benjamin Chun Yu Wong, Leonard E. Grosso, Elizabeth M. Brunt, Bruce R. Bacon

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)69-71
Number of pages3
JournalJournal of Clinical Gastroenterology
Volume33
Issue number1
DOIs
StatePublished - Jul 16 2001

Keywords

  • Chinese
  • Hemochromatosis
  • Hemochromatosis gene
  • Iron
  • Non-HFE iron overload

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