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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

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
Authors
Issue Date2007
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJH
Citation
British Journal of Haematology, 2007, v. 136 n. 1, p. 158-162 How to Cite?
Abstract
Anti-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.
Persistent Identifierhttp://hdl.handle.net/10722/148494
ISSN
2013 Impact Factor: 4.959
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Tuen Mun Hospital
DC FieldValueLanguage
dc.contributor.authorSo, CCen_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorTsang, STYen_US
dc.contributor.authorLee, ACWen_US
dc.contributor.authorAu, WYen_US
dc.contributor.authorMa, ESKen_US
dc.contributor.authorChan, LCen_US
dc.date.accessioned2012-05-29T06:13:17Z-
dc.date.available2012-05-29T06:13:17Z-
dc.date.issued2007en_US
dc.identifier.citationBritish Journal of Haematology, 2007, v. 136 n. 1, p. 158-162en_US
dc.identifier.issn0007-1048en_US
dc.identifier.urihttp://hdl.handle.net/10722/148494-
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.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/BJHen_US
dc.relation.ispartofBritish Journal of Haematologyen_US
dc.rightsBritish Journal of Haematology. Copyright © Blackwell Publishing Ltd.-
dc.subject.meshAdulten_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChilden_US
dc.subject.meshDna Primers - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Expression Regulation - Geneticsen_US
dc.subject.meshGene Fusionen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlobins - Geneticsen_US
dc.subject.meshHemoglobin A2 - Metabolismen_US
dc.subject.meshHemoglobins, Abnormal - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshReverse Transcriptase Polymerase Chain Reactionen_US
dc.subject.meshThalassemia - Blood - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Blood - Geneticsen_US
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-thalassaemiaen_US
dc.typeArticleen_US
dc.identifier.emailSo, CC: scc@pathology.hku.hken_US
dc.identifier.emailTsang, STY: stella@pathology.hku.hken_US
dc.identifier.emailAu, WY: auwing@HKUCC.hku.hk-
dc.identifier.emailChan, LC: chanlc@hkucc.hku.hk-
dc.identifier.authoritySo, CC=rp00391en_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1111/j.1365-2141.2006.06383.xen_US
dc.identifier.pmid17222202en_US
dc.identifier.scopuseid_2-s2.0-33845474518en_US
dc.identifier.hkuros125340-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33845474518&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume136en_US
dc.identifier.issue1en_US
dc.identifier.spage158en_US
dc.identifier.epage162en_US
dc.identifier.isiWOS:000244069600021-
dc.publisher.placeUnited Kingdomen_US
dc.customcontrol.immutablesml 130621-

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