Article
Screening for common nondeletional α-thalassemias in Chinese newborns by determination of Hb Bart's using the Sebia Capillarys 2 electrophoresis system.
Hemoglobin - 1 Jan 2012
Tang Hai-Shen, Zhou Jian-Ying, Xie Xing-Mei, Li Ru, Liao Can, Li Dong-Zhi
Abstract excerpt
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...
Topics
- Adult
- Asian People
- Electrophoresis, Capillary
- Gene Deletion
- Genotype
- Hemoglobin H
- Hemoglobins, Abnormal
- Humans
- Infant, Newborn
- Neonatal Screening
- Phenotype
- alpha-Globins
- alpha-Thalassemia
