title: Screening for common nondeletional α-thalassemias in Chinese newborns by determination of Hb Bart's using the Sebia Capillarys 2 electrophoresis system.
abstract: The interaction of the nondeletional α-thalassemia (α-thal) mutations with the Southeast Asian double α-globin gene deletion results in nondeletional Hb H (β4) disease. Hb Constant Spring (Hb CS, α142, TAA>CAA at α2) and Hb Quong Sze [Hb QS, α125, CTG>CCG (α2)] are the most common nondeletional α-thalassemias in the Chinese population. These α-globin structural variants are unstable and undetectable by routine hemoglobin (Hb) electrophoresis. The amount of Hb Bart's (γ4) in the cord blood of newborns correlates with the number of α-globin genes that are deleted. We determined the quantity of Hb Bart's in cord blood at birth with the Sebia CapillaryS electrophoresis system. Using Hb Bart's levels at 0.1-2.5% as a cut-off range for nondeletional α-thal diagnosis, we detected 154 individuals in 6,525 newborns. Of the 154 samples, 12 were found to be Hb CS carriers, 10 Hb QS carriers, and one Hb Westmead [α122, CAC>CAG (α2)] carrier. We present the first report of the prevalence of Hb QS in our population.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
authors.forename: Hai-Shen
authors.initials: HS
authors.lastname: Tang
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D019075:Electrophoresis, Capillary; D017353:Gene Deletion; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C045396:hemoglobin Quong Sze; C056329:Hemoglobin Westmead; D006447:Hemoglobin H; C030448:hemoglobin Bart's; C035541:Hemoglobin Constant Spring