title: Detection of Hb Constant Spring [α142, Term→Gln, TAA>CAA (α2)] in heterozygotes combined with β-thalassemia.
abstract: Hb Constant Spring [Hb CS, α142, Term→Gln, TAA>CAA (α2)] is a nondeletional form of α-thalassemia (α-thal) that is most prevalent in Southern Chinese and Southeast Asian populations. We previously found that Hb CS trait could efficiently be screened using Sebia Capillarys2. In this study, we report that Hb CS heterozygotes combined with β-thal could not be detected by the Sebia Capillarys2 method due to the very small amount of Hb CS.
authors: Clinical Laboratory, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People's Republic of China.
authors: You-Qiong
authors: YQ
authors: Li
authors: Ru
authors: R
authors: Li
authors: Dong-Zhi
authors: DZ
authors: Li
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D019075:Electrophoresis, Capillary / Q000379:methods; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C035541:Hemoglobin Constant Spring