MOLECULAR SCREENING OF THE Hbs CONSTANT SPRING (codon 142, TAA > CAA, alpha 2) AND PAKSE (codon 142, TAA > TAT, alpha 2) MUTATIONS IN THAILAND

Hb Constant Spring [Hb CS, alpha 142(H19) Term] and Hb Pakse [alpha 142(H19) Term] occur from the mutation in the termination codon of the alpha 2-globin gene, TAA > CAA (-> Gln) and TAA > TAT (-> Tyr), respectively. They are the most common nondeletional alpha-thalassemia (alpha-thal) variants causing Hb H disease in Southeast Asia. In this study, 587 cord blood samples were screened for the Hb CS and Hb Pakse 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 Pakse in Central Thailand are 5.80 and 0.51%, respectively, which is in concordance with the results from previous studies.