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

Hemoglobin. 2010;34(6):582-6. doi: 10.3109/03630269.2010.526914.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Codon / genetics
  • Genetic Testing
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Point Mutation*
  • Prevalence
  • Thailand / epidemiology
  • alpha-Globins / genetics*
  • alpha-Thalassemia / ethnology
  • alpha-Thalassemia / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Pakse
  • Hemoglobin Constant Spring