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Article: Routine screening of (--SEA) α-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic ζ-globin chains

TitleRoutine screening of (--SEA) α-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic ζ-globin chains
Authors
Issue Date2002
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/AHA
Citation
Acta Haematologica, 2002, v. 108 n. 1, p. 8-12 How to Cite?
Abstract
We evaluated an enzyme-linked immunosorbent assay (ELISA) for embryonic ζ-globin chains as a routine screening test for (--SEA) α-thalassemia deletion (SEA deletion). A total of 174 consecutive patient samples with a request for Hb analysis were recruited. The ELISA method was evaluated against a polymerase chain reaction (PCR)-based technique that was taken as the standard. Among 56 simple carriers of SEA deletion diagnosed by PCR and 112 subjects without the SEA deletion, the sensitivity and specificity of the ELISA method was 89.3-96.4 and 98.2-100%, respectively, depending on the cutoff value for optical density that was adopted. The ELISA method was able to detect both subjects with SEA deletion and concurrent β-thalassemia trait in this series, but only 1 out of 4 patients (25%) with Hb H disease. We speculate that incomplete lysis of hypochromic microcytic red cells together with the low red cell count in Hb H disease might account for the false-negative results. We showed that the ELISA method for embryonic ζ-chains was a sensitive method of screening for SEA deletion carriers at our locality, and should be easily adopted in a routine diagnostic laboratory. The method was rapid and also amendable to automation. In areas with a high prevalence of α-thalassemia, improved detection of SEA deletion carriers would ultimately facilitate the identification of pregnancies at risk of hydrops fetalis and its prevention through prenatal diagnosis. Copyright © 2002 S. Karger AG, Basel.
Persistent Identifierhttp://hdl.handle.net/10722/148283
ISSN
2013 Impact Factor: 0.994
ISI Accession Number ID
References

 

Author Affiliations
  1. McMaster University
  2. The University of Hong Kong
DC FieldValueLanguage
dc.contributor.authorMa, SKen_US
dc.contributor.authorMa, Ven_US
dc.contributor.authorChan, AYYen_US
dc.contributor.authorChan, LCen_US
dc.contributor.authorChui, DHKen_US
dc.date.accessioned2012-05-29T06:11:59Z-
dc.date.available2012-05-29T06:11:59Z-
dc.date.issued2002en_US
dc.identifier.citationActa Haematologica, 2002, v. 108 n. 1, p. 8-12en_US
dc.identifier.issn0001-5792en_US
dc.identifier.urihttp://hdl.handle.net/10722/148283-
dc.description.abstractWe evaluated an enzyme-linked immunosorbent assay (ELISA) for embryonic ζ-globin chains as a routine screening test for (--SEA) α-thalassemia deletion (SEA deletion). A total of 174 consecutive patient samples with a request for Hb analysis were recruited. The ELISA method was evaluated against a polymerase chain reaction (PCR)-based technique that was taken as the standard. Among 56 simple carriers of SEA deletion diagnosed by PCR and 112 subjects without the SEA deletion, the sensitivity and specificity of the ELISA method was 89.3-96.4 and 98.2-100%, respectively, depending on the cutoff value for optical density that was adopted. The ELISA method was able to detect both subjects with SEA deletion and concurrent β-thalassemia trait in this series, but only 1 out of 4 patients (25%) with Hb H disease. We speculate that incomplete lysis of hypochromic microcytic red cells together with the low red cell count in Hb H disease might account for the false-negative results. We showed that the ELISA method for embryonic ζ-chains was a sensitive method of screening for SEA deletion carriers at our locality, and should be easily adopted in a routine diagnostic laboratory. The method was rapid and also amendable to automation. In areas with a high prevalence of α-thalassemia, improved detection of SEA deletion carriers would ultimately facilitate the identification of pregnancies at risk of hydrops fetalis and its prevention through prenatal diagnosis. Copyright © 2002 S. Karger AG, Basel.en_US
dc.languageengen_US
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/AHAen_US
dc.relation.ispartofActa Haematologicaen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshAnemia, Hypochromic - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshComorbidityen_US
dc.subject.meshEnzyme-Linked Immunosorbent Assayen_US
dc.subject.meshFemaleen_US
dc.subject.meshGlobins - Analysis - Geneticsen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMass Screeningen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshSensitivity And Specificityen_US
dc.subject.meshSequence Deletionen_US
dc.subject.meshAlpha-Thalassemia - Blood - Epidemiology - Geneticsen_US
dc.subject.meshBeta-Thalassemia - Blood - Epidemiology - Geneticsen_US
dc.titleRoutine screening of (--SEA) α-thalassemia deletion by an enzyme-linked immunosorbent assay for embryonic ζ-globin chainsen_US
dc.typeArticleen_US
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_US
dc.identifier.authorityChan, LC=rp00373en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1159/000063060en_US
dc.identifier.pmid12145460en_US
dc.identifier.scopuseid_2-s2.0-0036368152en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036368152&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume108en_US
dc.identifier.issue1en_US
dc.identifier.spage8en_US
dc.identifier.epage12en_US
dc.identifier.isiWOS:000177278300002-
dc.publisher.placeSwitzerlanden_US

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