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dc.contributor.authorSurada Satthakarnen_US
dc.contributor.authorSitthichai Panyasaien_US
dc.contributor.authorSakorn Pornpraserten_US
dc.date.accessioned2021-01-27T03:41:12Z-
dc.date.available2021-01-27T03:41:12Z-
dc.date.issued2020-01-01en_US
dc.identifier.issn1532432Xen_US
dc.identifier.issn03630269en_US
dc.identifier.other2-s2.0-85092196067en_US
dc.identifier.other10.1080/03630269.2020.1826327en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85092196067&origin=inwarden_US
dc.identifier.urihttp://cmuir.cmu.ac.th/jspui/handle/6653943832/71357-
dc.description.abstract© 2020 Informa UK Limited, trading as Taylor & Francis Group. Elevated Hb A2 level (≥4.0%) is considered to be reliable parameter to identify β-thalassemia (β-thal) carriers. However, some β-thal carriers have been misdiagnosed as their Hb A2 levels are below 4.0%. In addition, coinheritance of α-thalassemia (α-thal) and β-thal might affect Hb A2 levels. Therefore, the aim of this study was to investigate the mutations of β- and α-globin genes in individuals with borderline Hb A2 levels in Thailand. Three hundred samples from individuals with Hb A2 levels of 3.5–3.9% were collected for molecular diagnosis of β-globin gene mutations. In addition, the α0-thal, α+-thal, Hb Constant Spring (Hb CS, HBA2: c.427T>C), and Hb Paksé (HBA2: c.429A>T) diagnostics were also performed. Sixteen samples (5.33%) had β-globin gene mutations, and codon 41/42 (–TTCT) (HBB: c.126_129delCTTT) was the most prevalent mutation. Ninety-eight samples (32.67%) had α-globin gene mutations including four Hb H (β4)-Hb CS disease, two Hb H disease, 13 heterozygous α0-thal, 11 homozygous α+-thal, two α+-thal/Hb CS, one α+-thal/Hb Paksé, 61 heterozygous α+-thal, and four Hb CS. Furthermore, seven cases of β-thal carriers coinheriting α-thal were observed, and five of them carried Hb H disease. High prevalence of both α- and β-thal in subjects with borderline Hb A2 levels suggested that molecular diagnosis of α- and β-thal should be performed, especially in a high prevalence area of thalasssemia carriers, for accurate diagnosis and genetic counseling to prevent and control new severe thalassemia cases. Moreover, β-thal carriers who coinherited Hb H disease might have reduced Hb A2 levels, leading to a misdiagnosis of β-thal in analysis programs.en_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.subjectMedicineen_US
dc.titleMolecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A<inf>2</inf> Levelsen_US
dc.typeJournalen_US
article.title.sourcetitleHemoglobinen_US
article.volume44en_US
article.stream.affiliationsUniversity of Phayaoen_US
article.stream.affiliationsChiang Mai Universityen_US
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