title: Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, α2) and Paksé (codon 142, TAA>TAT, α2) mutations in Thailand.
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.
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand.
authors.forename: Dalad
authors.initials: D
authors.lastname: Pichanun
authors.forename: Thongperm
authors.initials: T
authors.lastname: Munkongdee
authors.forename: Sumonmaln
authors.initials: S
authors.lastname: Klamchuen
authors.forename: Punnee
authors.initials: P
authors.lastname: Butthep
authors.forename: Pranee
authors.initials: P
authors.lastname: Winichagoon
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Saovaros
authors.initials: S
authors.lastname: Svasti
mesh_terms: D044466:Asian People / Q000235:genetics; D003062:Codon / Q000235:genetics; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D015995:Prevalence; D013785:Thailand / Q000453:epidemiology; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000208:ethnology / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C099132:hemoglobin Pakse; C035541:Hemoglobin Constant Spring