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: Hai-Shen Tang, Jian-Ying Zhou, Xing-Mei Xie, Ru Li, Can Liao, Dong-Zhi Li
• Journal: Hemoglobin (Hemoglobin) Vol. 36 Issue 2 Pg. 196-9 ( 2012) ISSN: 1532-432X [Electronic] England
• PMID: 22239481 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• alpha-Globins
• hemoglobin Quong Sze
• Hemoglobin Westmead
• Hemoglobin H
• hemoglobin Bart's
• Hemoglobin Constant Spring

Topics

• Adult
• Asian People (genetics)
• Electrophoresis, Capillary
• Gene Deletion
• Genotype
• Hemoglobin H (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Infant, Newborn
• Neonatal Screening
• Phenotype
• alpha-Globins (genetics)
• alpha-Thalassemia (diagnosis, genetics)