Article: A Chinese patient with non-HFE-linked iron overload

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TitleA Chinese patient with non-HFE-linked iron overload
AuthorsKng, C1 3
Ng, FH1 3
Ng, WF1 3
Wong, BCY1 3
Grosso, LE2
Brunt, EM2
Bacon, BR2
Issue Date2001
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jcge.com
CitationJournal Of Clinical Gastroenterology, 2001, v. 33 n. 1, p. 69-71 [How to Cite?]
DOI: http://dx.doi.org/10.1097/00004836-200107000-00017
AbstractThe 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.
ISSN0192-0790
2011 Impact Factor: 3.159
2011 SCImago Journal Rankings: 0.260
DOIhttp://dx.doi.org/10.1097/00004836-200107000-00017
ISI Accession Number IDWOS:000169668000017
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorKng, C
dc.contributor.authorNg, FH
dc.contributor.authorNg, WF
dc.contributor.authorWong, BCY
dc.contributor.authorGrosso, LE
dc.contributor.authorBrunt, EM
dc.contributor.authorBacon, BR
dc.date.accessioned2010-09-06T07:26:01Z
dc.date.available2010-09-06T07:26:01Z
dc.date.issued2001
dc.description.abstractThe 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.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationJournal Of Clinical Gastroenterology, 2001, v. 33 n. 1, p. 69-71 [How to Cite?]
DOI: http://dx.doi.org/10.1097/00004836-200107000-00017
dc.identifier.doihttp://dx.doi.org/10.1097/00004836-200107000-00017
dc.identifier.epage71
dc.identifier.hkuros72204
dc.identifier.isiWOS:000169668000017
dc.identifier.issn0192-0790
2011 Impact Factor: 3.159
2011 SCImago Journal Rankings: 0.260
dc.identifier.issue1
dc.identifier.openurl
dc.identifier.pmid11418796
dc.identifier.scopuseid_2-s2.0-0034963264
dc.identifier.spage69
dc.identifier.urihttp://hdl.handle.net/10722/76890
dc.identifier.volume33
dc.languageeng
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jcge.com
dc.publisher.placeUnited States
dc.relation.ispartofJournal of Clinical Gastroenterology
dc.relation.referencesReferences in Scopus
dc.rightsJournal of Clinical Gastroenterology. Copyright © Lippincott Williams & Wilkins.
dc.subject.meshAged
dc.subject.meshBiopsy
dc.subject.meshDNA Mutational Analysis
dc.subject.meshDiagnosis, Differential
dc.subject.meshFemale
dc.subject.meshHLA Antigens - genetics
dc.subject.meshHemochromatosis - genetics - pathology
dc.subject.meshHistocompatibility Antigens Class I - genetics
dc.subject.meshHong Kong
dc.subject.meshHumans
dc.subject.meshLiver - pathology
dc.subject.meshMembrane Proteins
dc.titleA Chinese patient with non-HFE-linked iron overload
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong
  2. St. Louis University School of Medicine
  3. Ruttonjee Hospital Hong Kong