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Article: A laboratory strategy for genotyping haemoglobin H disease in the Chinese

TitleA laboratory strategy for genotyping haemoglobin H disease in the Chinese
Authors
Issue Date2007
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
Citation
Journal Of Clinical Pathology, 2007, v. 60 n. 8, p. 931-934 How to Cite?
Abstract
Background: The thalassaemias are the commonest blood disorders worldwide, with South East Asia and southern China as areas of high prevalence. Accurate diagnosis of these disorders helps in clinical management with improved outcome. Methods: The α-globin genotypes of 100 Chinese patients in Hong Kong with haemoglobin H (Hb H) disease were characterised. Single-tube multiplex gap-PCR was used to detect -SEA, -α3.7 and -α4.2, while Hb CS, Hb QS and codon 30 (ΔGAG) were identified by single-tube multiplex amplification refractory mutation system (ARMS). Automated direct nucleotide sequencing of the amplified α2- and α1-globin genes was performed to characterise other non-deletional a-thalassaemia determinants. Results: In the 100 cases studied, 99 cases had -SEA in combination with deletional α+-thalassaemia or non-deletional α-globin gene mutation involving the α2-globin gene. In 70 cases of the deletional form, 43 cases showed the genotype of (-SEA/-α3.7) and 27 cases of (-SEA/- α4.2). Three of the 27 cases of (-SEA/- α4.2) were found to have Hb Q-Thailand linked in-cis with -α4.2. The remaining 30 cases were of non-deletional form with the following genotypes: 11 cases of (-SEA/α HbCSα), 9 cases of (-SEA/α HbQSα), 3 cases of (-SEA/αcd30 (ΔGAG)α), 3 cases of (- SEA/αcd31α), 2 cases of (-SEA/ αpoly-Aα), 1 case of (-SEA/ αHbWestmeadα) and 1 case of (-non-SEA/ αHbQSα). Conclusions: Based on two rapid diagnostic tests, multiplex gap-PCR and multiplex ARMS, more than 90% of the cases were genetically characterised. This laboratory strategy should be widely applicable for genetic diagnosis of α-thalassaemia.
Persistent Identifierhttp://hdl.handle.net/10722/57151
ISSN
2013 Impact Factor: 2.551
PubMed Central ID
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Hong Kong Sanatorium and Hospital
DC FieldValueLanguage
dc.contributor.authorChan, AYYen_HK
dc.contributor.authorSo, CCen_HK
dc.contributor.authorMa, ESKen_HK
dc.contributor.authorChan, LCen_HK
dc.date.accessioned2010-04-12T01:27:24Z-
dc.date.available2010-04-12T01:27:24Z-
dc.date.issued2007en_HK
dc.identifier.citationJournal Of Clinical Pathology, 2007, v. 60 n. 8, p. 931-934en_HK
dc.identifier.issn0021-9746en_HK
dc.identifier.urihttp://hdl.handle.net/10722/57151-
dc.description.abstractBackground: The thalassaemias are the commonest blood disorders worldwide, with South East Asia and southern China as areas of high prevalence. Accurate diagnosis of these disorders helps in clinical management with improved outcome. Methods: The α-globin genotypes of 100 Chinese patients in Hong Kong with haemoglobin H (Hb H) disease were characterised. Single-tube multiplex gap-PCR was used to detect -SEA, -α3.7 and -α4.2, while Hb CS, Hb QS and codon 30 (ΔGAG) were identified by single-tube multiplex amplification refractory mutation system (ARMS). Automated direct nucleotide sequencing of the amplified α2- and α1-globin genes was performed to characterise other non-deletional a-thalassaemia determinants. Results: In the 100 cases studied, 99 cases had -SEA in combination with deletional α+-thalassaemia or non-deletional α-globin gene mutation involving the α2-globin gene. In 70 cases of the deletional form, 43 cases showed the genotype of (-SEA/-α3.7) and 27 cases of (-SEA/- α4.2). Three of the 27 cases of (-SEA/- α4.2) were found to have Hb Q-Thailand linked in-cis with -α4.2. The remaining 30 cases were of non-deletional form with the following genotypes: 11 cases of (-SEA/α HbCSα), 9 cases of (-SEA/α HbQSα), 3 cases of (-SEA/αcd30 (ΔGAG)α), 3 cases of (- SEA/αcd31α), 2 cases of (-SEA/ αpoly-Aα), 1 case of (-SEA/ αHbWestmeadα) and 1 case of (-non-SEA/ αHbQSα). Conclusions: Based on two rapid diagnostic tests, multiplex gap-PCR and multiplex ARMS, more than 90% of the cases were genetically characterised. This laboratory strategy should be widely applicable for genetic diagnosis of α-thalassaemia.en_HK
dc.languageengen_HK
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/en_HK
dc.relation.ispartofJournal of Clinical Pathologyen_HK
dc.rightsJournal of Clinical Pathology. Copyright © B M J Publishing Group.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshalpha-Thalassemia - ethnology - geneticsen_HK
dc.subject.meshPolymerase Chain Reaction - methodsen_HK
dc.subject.meshHemoglobins, Abnormal - geneticsen_HK
dc.subject.meshGlobins - geneticsen_HK
dc.subject.meshAged, 80 and overen_HK
dc.titleA laboratory strategy for genotyping haemoglobin H disease in the Chineseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0021-9746&volume=60&issue=8&spage=931&epage=934&date=2007&atitle=A+laboratory+strategy+for+genotyping+haemoglobin+H+disease+in+the+Chineseen_HK
dc.identifier.emailSo, CC:scc@pathology.hku.hken_HK
dc.identifier.emailChan, LC:chanlc@hkucc.hku.hken_HK
dc.identifier.authoritySo, CC=rp00391en_HK
dc.identifier.authorityChan, LC=rp00373en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jcp.2006.042242en_HK
dc.identifier.pmid17018682en_HK
dc.identifier.pmcidPMC1994485-
dc.identifier.scopuseid_2-s2.0-34547798065en_HK
dc.identifier.hkuros125341-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-34547798065&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume60en_HK
dc.identifier.issue8en_HK
dc.identifier.spage931en_HK
dc.identifier.epage934en_HK
dc.identifier.isiWOS:000248353000013-
dc.publisher.placeUnited Kingdomen_HK

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