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

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TitleA laboratory strategy for genotyping haemoglobin H disease in the Chinese
AuthorsChan, AYY1
So, CC1
Ma, ESK2
Chan, LC1
Issue Date2007
PublisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
CitationJournal Of Clinical Pathology, 2007, v. 60 n. 8, p. 931-934 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2006.042242
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.
ISSN0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
DOIhttp://dx.doi.org/10.1136/jcp.2006.042242
PubMed Central IDPMC1994485
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorChan, AYY
dc.contributor.authorSo, CC
dc.contributor.authorMa, ESK
dc.contributor.authorChan, LC
dc.date.accessioned2010-04-12T01:27:24Z
dc.date.available2010-04-12T01:27:24Z
dc.date.issued2007
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.
dc.description.naturepublished_or_final_version
dc.identifier.citationJournal Of Clinical Pathology, 2007, v. 60 n. 8, p. 931-934 [How to Cite?]
DOI: http://dx.doi.org/10.1136/jcp.2006.042242
dc.identifier.doihttp://dx.doi.org/10.1136/jcp.2006.042242
dc.identifier.epage934
dc.identifier.hkuros125341
dc.identifier.isiWOS:000248353000013
dc.identifier.issn0021-9746
2011 Impact Factor: 2.306
2011 SCImago Journal Rankings: 0.236
dc.identifier.issue8
dc.identifier.openurl
dc.identifier.pmcidPMC1994485
dc.identifier.pmid17018682
dc.identifier.scopuseid_2-s2.0-34547798065
dc.identifier.spage931
dc.identifier.urihttp://hdl.handle.net/10722/57151
dc.identifier.volume60
dc.languageeng
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jcp.bmjjournals.com/
dc.publisher.placeUnited Kingdom
dc.relation.ispartofJournal of Clinical Pathology
dc.relation.referencesReferences in Scopus
dc.rightsJournal of Clinical Pathology. Copyright © B M J Publishing Group.
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
dc.subject.meshalpha-Thalassemia - ethnology - genetics
dc.subject.meshPolymerase Chain Reaction - methods
dc.subject.meshHemoglobins, Abnormal - genetics
dc.subject.meshGlobins - genetics
dc.subject.meshAged, 80 and over
dc.titleA laboratory strategy for genotyping haemoglobin H disease in the Chinese
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Hong Kong Sanatorium and Hospital