Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, alpha2) and Pakse (codon 142, TAA>TAT, alpha2) mutations in Thailand.

摘要

Hb Constant Spring [Hb CS, alpha142(H19)Term] and Hb Pakse [alpha142(H19)Term] occur from the mutation in the termination codon of the alpha2-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.