Molecular Screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and PAKSÉ (codon 142, TAA>TAT, α2) Mutations in Thailand
Source: Hemoglobin, Volume 34, Number 6, December 2010 , pp. 582-586(5)
Publisher: Informa Healthcare
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.
Document Type: Short Communication
Affiliations: 1: 1Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand 2: 3Nakhonpathom Hospital, Nakornpathom, Thailand 3: 2Department of Clinical Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Publication date: December 2010