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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
2012 Impact Factor: 2.439
2012 SCImago Journal Rankings: 0.980
 
DOIhttp://dx.doi.org/10.1136/jcp.2006.042242
 
PubMed Central IDPMC1994485
 
ISI Accession Number IDWOS:000248353000013
 
ReferencesReferences in Scopus
 
DC FieldValue
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
2012 Impact Factor: 2.439
2012 SCImago Journal Rankings: 0.980
 
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
 
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<description.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 &#945;-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, -&#945;3.7 and -&#945;4.2, while Hb CS, Hb QS and codon 30 (&#916;GAG) were identified by single-tube multiplex amplification refractory mutation system (ARMS). Automated direct nucleotide sequencing of the amplified &#945;2- and &#945;1-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 &#945;+-thalassaemia or non-deletional &#945;-globin gene mutation involving the &#945;2-globin gene. In 70 cases of the deletional form, 43 cases showed the genotype of (-SEA/-&#945;3.7) and 27 cases of (-SEA/- &#945;4.2). Three of the 27 cases of (-SEA/- &#945;4.2) were found to have Hb Q-Thailand linked in-cis with -&#945;4.2. The remaining 30 cases were of non-deletional form with the following genotypes: 11 cases of (-SEA/&#945; HbCS&#945;), 9 cases of (-SEA/&#945; HbQS&#945;), 3 cases of (-SEA/&#945;cd30 (&#916;GAG)&#945;), 3 cases of (- SEA/&#945;cd31&#945;), 2 cases of (-SEA/ &#945;poly-A&#945;), 1 case of (-SEA/ &#945;HbWestmead&#945;) and 1 case of (-non-SEA/ &#945;HbQS&#945;). 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 &#945;-thalassaemia.</description.abstract>
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<subject.mesh>Polymerase Chain Reaction - methods</subject.mesh>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Hong Kong Sanatorium and Hospital