ÛWe describe a Chinese newborn who was assumed to have α 0 -thalassemia (α 0 -thal) by determining the amount of Hb Bart's (γ4) in the cord blood, but was later shown to have only α þ -thal. Hb J-Wenchang-Wuming [α11(A9)Lys!Gln (AAG>CAG) (α2 or α1)] was mistaken for Hb Bart's as both hemoglobin (Hb) variants have the same mobility.
We report a novel case of Hb Phnom Penh [α117(GH5)Phe-Ile-α118(H1)Thr (α1)] detected through cord blood screening for hemoglobinopathies. Sequence analyses identified this in-frame mutation at codons 117/118 (+ATC) in exon 3 of the α1-globin gene. This mutation causes a silent α-thalassemia (α-thal).
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