Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in Thailand

Dalad PichanunThongperm MunkongdeeSumonmaln KlamchuenPunnee ButthepPranee WinichagoonSuthat FucharoenSaovaros SvastiMahidol UniversityNakhonpathom Hospital2018-09-242018-09-242010-12-01Hemoglobin. Vol.34, No.6 (2010), 582-5861532432X036302692-s2.0-79952162877https://repository.li.mahidol.ac.th/handle/20.500.14594/28584Hb 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. © 2010 Informa Healthcare USA, Inc.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineMolecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in ThailandArticleSCOPUS10.3109/03630269.2010.526914