Molecular Screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and PAKSÉ (codon 142, TAA>TAT, α2) Mutations in Thailand

Dalad Pichanun Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand; Department of Clinical Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Thongperm Munkongdee Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand

Sumonmaln Klamchuen Nakhonpathom Hospital, Nakornpathom, Thailand

Punnee Butthep Department of Clinical Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Pranee Winichagoon Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand

Suthat Fucharoen Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand

Saovaros Svasti Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, ThailandCorrespondence[email protected]

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Abstract

Hb Constant Spring [Hb CS, α142(H19)Term] and Hb Paksé [α142(H19)Term] occur from the mutation in the termination codon of the α2-globin gene, TAA>CAA (→Gln) and TAA>TAT (→Tyr), respectively. They are the most common nondeletional α-thalassemia (α-thal) variants causing Hb H disease in Southeast Asia. In this study, 587 cord blood samples were screened for the Hb CS and Hb Paksé mutations by a dot-blot hybridization technique using oligonucleotide probes specific for each mutation. The results showed that the prevalence of Hb CS and Hb Paksé in Central Thailand are 5.80 and 0.51%, respectively, which is in concordance with the results from previous studies.

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Molecular Screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and PAKSÉ (codon 142, TAA>TAT, α2) Mutations in Thailand

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Molecular Screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and PAKSÉ (codon 142, TAA>TAT, α2) Mutations in Thailand

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