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Article: Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?

TitleCan defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?
Authors
Issue Date2003
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ybcmd
Citation
Blood Cells, Molecules, And Diseases, 2003, v. 30 n. 1, p. 107-111 How to Cite?
AbstractIron overload was found to be the major cause of disability in Chinese HbH disease patients although they were not on regular blood transfusion. The transferrin receptor 2 (TFR2) and hereditary hemochromatosis (HFE) genes were examined to see if inheritance of these gene defects may be a possible cause of iron overload in 45 HbH patients. A novel intronic (IVS6 (+6) T→A) mutation of the TFR2 gene was identified in one patient, and six others were found to carry a known missense mutation (exon 5, I238M) that was also present in one normal control subject. One HbH patient and one normal control carried the H63D mutation of the HFE gene. Since only eight out of 45 iron-overloaded HbH patients carry a defect in the TFR2 or HFE gene in the heterozygote state and their iron loading status was comparable to the matched controls without such defects, it would appear that the accumulation of excess iron in HbH disease is more likely a result of increase dietary absorption secondary to ineffective erythropoiesis. © 2003 Elsevier Science (USA). All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/78003
ISSN
2015 Impact Factor: 2.731
2015 SCImago Journal Rankings: 1.294
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorWong, MSen_HK
dc.contributor.authorOoi, Cen_HK
dc.contributor.authorChen, FEen_HK
dc.contributor.authorChim, CSen_HK
dc.contributor.authorLiang, RHSen_HK
dc.contributor.authorTodd, Den_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2010-09-06T07:38:06Z-
dc.date.available2010-09-06T07:38:06Z-
dc.date.issued2003en_HK
dc.identifier.citationBlood Cells, Molecules, And Diseases, 2003, v. 30 n. 1, p. 107-111en_HK
dc.identifier.issn1079-9796en_HK
dc.identifier.urihttp://hdl.handle.net/10722/78003-
dc.description.abstractIron overload was found to be the major cause of disability in Chinese HbH disease patients although they were not on regular blood transfusion. The transferrin receptor 2 (TFR2) and hereditary hemochromatosis (HFE) genes were examined to see if inheritance of these gene defects may be a possible cause of iron overload in 45 HbH patients. A novel intronic (IVS6 (+6) T→A) mutation of the TFR2 gene was identified in one patient, and six others were found to carry a known missense mutation (exon 5, I238M) that was also present in one normal control subject. One HbH patient and one normal control carried the H63D mutation of the HFE gene. Since only eight out of 45 iron-overloaded HbH patients carry a defect in the TFR2 or HFE gene in the heterozygote state and their iron loading status was comparable to the matched controls without such defects, it would appear that the accumulation of excess iron in HbH disease is more likely a result of increase dietary absorption secondary to ineffective erythropoiesis. © 2003 Elsevier Science (USA). All rights reserved.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ybcmden_HK
dc.relation.ispartofBlood Cells, Molecules, and Diseasesen_HK
dc.subject.meshAllelesen_HK
dc.subject.meshChinaen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshGene Frequencyen_HK
dc.subject.meshHemochromatosis - complications - geneticsen_HK
dc.subject.meshHeterozygoteen_HK
dc.subject.meshHistocompatibility Antigens Class I - geneticsen_HK
dc.subject.meshHomozygoteen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIron Overload - blood - etiology - geneticsen_HK
dc.subject.meshMembrane Proteins - geneticsen_HK
dc.subject.meshPoint Mutation - geneticsen_HK
dc.subject.meshPolymorphism, Single Nucleotide - geneticsen_HK
dc.subject.meshRNA, Messenger - blood - geneticsen_HK
dc.subject.meshReceptors, Transferrin - deficiency - geneticsen_HK
dc.subject.meshReverse Transcriptase Polymerase Chain Reactionen_HK
dc.subject.meshalpha-Thalassemia - complications - geneticsen_HK
dc.titleCan defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1079-9796&volume=30&spage=107&epage=111&date=2003&atitle=Can+Defects+in+Transferrin+Receptor+2+and+Hereditary+Hemochromatosis+Genes+Account+for+Iron+Overload+in+HbH+Disease?+en_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.emailChim, CS:jcschim@hku.hken_HK
dc.identifier.emailLiang, RHS:rliang@hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityChim, CS=rp00408en_HK
dc.identifier.authorityLiang, RHS=rp00345en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/S1079-9796(03)00013-5en_HK
dc.identifier.pmid12667993-
dc.identifier.scopuseid_2-s2.0-0037232545en_HK
dc.identifier.hkuros80504en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037232545&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume30en_HK
dc.identifier.issue1en_HK
dc.identifier.spage107en_HK
dc.identifier.epage111en_HK
dc.identifier.isiWOS:000182182200012-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridWong, MS=35773949100en_HK
dc.identifier.scopusauthoridOoi, C=18837726600en_HK
dc.identifier.scopusauthoridChen, FE=25928259900en_HK
dc.identifier.scopusauthoridChim, CS=7004597253en_HK
dc.identifier.scopusauthoridLiang, RHS=26643224900en_HK
dc.identifier.scopusauthoridTodd, D=7201388182en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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