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HB J-WENCHANG-WUMING [α11(A9)Lys→Gln (AAG>CAG) (α2 or α1)] COMPROMISES NEONATAL SCREENING FOR α-THALASSEMIA WITH THE SEBIA CAPILLARYS2 ELECTROPHORESIS SYSTEM

Journal

HEMOGLOBIN
Volume 36, Issue 4, Pages 395-398

Publisher

INFORMA HEALTHCARE
DOI: 10.3109/03630269.2012.691930

Keywords

alpha-Thalassemia (alpha-thal); Newborn screening; Hb Bart's (gamma 4); Capillary electrophoresis

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We describe a Chinese newborn who was assumed to have alpha(0)-thalassemia (alpha(0)-thal) by determining the amount of Hb Bart's (gamma 4) in the cord blood, but was later shown to have only alpha(+)-thal. Hb J-Wenchang-Wuming [alpha 11(A9) Lys -> Gln (AAG>CAG) (alpha 2 or alpha 1)] was mistaken for Hb Bart's as both hemoglobin (Hb) variants have the same mobility.

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