Publication: Allele Related Mutation Specific-Polymerase Chain Reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val→Glu, β<sup>CD113 GTG→GAG</sup>)
Issued Date
2002-08-01
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ISSN
01252208
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2-s2.0-2542586547
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.85, No.SUPPL. 2 (2002)
Suggested Citation
Vip Viprakasit, Lerlugsn Suwantol, Worawut Chinchang, Kalaya Tachavanich, Parichat Pung-Amritt, Voravarn S. Tanphaichitr Allele Related Mutation Specific-Polymerase Chain Reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val→Glu, β<sup>CD113 GTG→GAG</sup>). Journal of the Medical Association of Thailand. Vol.85, No.SUPPL. 2 (2002). Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/20456
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Title
Allele Related Mutation Specific-Polymerase Chain Reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val→Glu, β<sup>CD113 GTG→GAG</sup>)
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Abstract
Hemoglobin New York (beta 113 (G15) Val→Glu), a β-globin variant, was first reported in a Chinese family living in New York. Subsequently, this abnormal hemoglobin was reported in many Chinese descendants from several groups and it was also known as Hb Kaohsiung. The subtle change in α1,β1, contact region apart from the heme group connecting area by Val→Glu substitution has minor changes in both the electrophoretic mobility and stability making this hemoglobin variant difficult to distinguish from Hb A using routine hemoglobin analysis. The authors described a case of heterozygosity of Hb New York diagnosed by a molecular technique and revealed a mutation in βCD113 GTG→GAG. A novel Allele Related Mutation Specific-Polymerase Chain Reaction (ARMS-PCR) for rapid diagnosis of this mutation has been proposed.