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Article: A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with β0-thalassaemia
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TitleA novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with β0-thalassaemia
 
AuthorsSo, CC1
Chan, AYY1
Tsang, STY1
Lee, ACW2
Au, WY1
Ma, ESK1
Chan, LC1
 
Issue Date2007
 
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
 
CitationBritish Journal of Haematology, 2007, v. 136 n. 1, p. 158-162 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1365-2141.2006.06383.x
 
AbstractAnti-Lepore haemoglobins (Hb) are rare βδ fusion variants that arise from non-homologous crossover during meiosis, resulting in a δ-βδ-β configuration. A novel anti-Lepore mutation (anti-Lepore Hong Kong) was found in two Chinese families with raised Hb A 2. Direct sequencing revealed a crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1, which predicted the production of normal δ-globin. Determination of α/β-mRNA ratios by quantitative real-time polymerase chain reaction demonstrated downregulation of the β gene in cis due to the interposed βδ fusion gene. Although heterozygotes have normal red cell indices and are clinically silent, compound heterozygotes with β0 mutation in trans produce a mild thalassaemia intermedia phenotype with a markedly raised Hb A2 level that may mimic clinically mild Hb E-β+-thalassaemia. Awareness of the presence of anti-Lepore Hong Kong will help to resolve diagnostic problems in regions with significant prevalence of globin disorders. © 2007 The Authors.
 
ISSN0007-1048
2012 Impact Factor: 4.942
2012 SCImago Journal Rankings: 1.644
 
DOIhttp://dx.doi.org/10.1111/j.1365-2141.2006.06383.x
 
ISI Accession Number IDWOS:000244069600021
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorSo, CC
 
dc.contributor.authorChan, AYY
 
dc.contributor.authorTsang, STY
 
dc.contributor.authorLee, ACW
 
dc.contributor.authorAu, WY
 
dc.contributor.authorMa, ESK
 
dc.contributor.authorChan, LC
 
dc.date.accessioned2012-05-29T06:13:17Z
 
dc.date.available2012-05-29T06:13:17Z
 
dc.date.issued2007
 
dc.description.abstractAnti-Lepore haemoglobins (Hb) are rare βδ fusion variants that arise from non-homologous crossover during meiosis, resulting in a δ-βδ-β configuration. A novel anti-Lepore mutation (anti-Lepore Hong Kong) was found in two Chinese families with raised Hb A 2. Direct sequencing revealed a crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1, which predicted the production of normal δ-globin. Determination of α/β-mRNA ratios by quantitative real-time polymerase chain reaction demonstrated downregulation of the β gene in cis due to the interposed βδ fusion gene. Although heterozygotes have normal red cell indices and are clinically silent, compound heterozygotes with β0 mutation in trans produce a mild thalassaemia intermedia phenotype with a markedly raised Hb A2 level that may mimic clinically mild Hb E-β+-thalassaemia. Awareness of the presence of anti-Lepore Hong Kong will help to resolve diagnostic problems in regions with significant prevalence of globin disorders. © 2007 The Authors.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationBritish Journal of Haematology, 2007, v. 136 n. 1, p. 158-162 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1365-2141.2006.06383.x
 
dc.identifier.doihttp://dx.doi.org/10.1111/j.1365-2141.2006.06383.x
 
dc.identifier.epage162
 
dc.identifier.hkuros125340
 
dc.identifier.isiWOS:000244069600021
 
dc.identifier.issn0007-1048
2012 Impact Factor: 4.942
2012 SCImago Journal Rankings: 1.644
 
dc.identifier.issue1
 
dc.identifier.pmid17222202
 
dc.identifier.scopuseid_2-s2.0-33845474518
 
dc.identifier.spage158
 
dc.identifier.urihttp://hdl.handle.net/10722/148494
 
dc.identifier.volume136
 
dc.languageeng
 
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofBritish Journal of Haematology
 
dc.relation.referencesReferences in Scopus
 
dc.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.
 
dc.subject.meshAdult
 
dc.subject.meshBase Sequence
 
dc.subject.meshChild
 
dc.subject.meshDna Primers - Genetics
 
dc.subject.meshFemale
 
dc.subject.meshGene Expression Regulation - Genetics
 
dc.subject.meshGene Fusion
 
dc.subject.meshGenetic Variation
 
dc.subject.meshGenotype
 
dc.subject.meshGlobins - Genetics
 
dc.subject.meshHemoglobin A2 - Metabolism
 
dc.subject.meshHemoglobins, Abnormal - Genetics
 
dc.subject.meshHeterozygote
 
dc.subject.meshHong Kong
 
dc.subject.meshHumans
 
dc.subject.meshMale
 
dc.subject.meshMolecular Sequence Data
 
dc.subject.meshPhenotype
 
dc.subject.meshReverse Transcriptase Polymerase Chain Reaction
 
dc.subject.meshThalassemia - Blood - Genetics
 
dc.subject.meshBeta-Thalassemia - Blood - Genetics
 
dc.titleA novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with β0-thalassaemia
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Tuen Mun Hospital