Arrangements of α-Globin Gene Cluster in Taiwan

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Abstract
In a gene mapping study on 217 newborn babies in Taiwan with α- and ζ-globin probes, we have observed 4 cases (1.84%) of α-thalassemia-2 heterozygotes (ζζ-α/ζζαα) without increased levels of hemoglobin (Hb) Bart’s in the cord blood. Eleven subjects (5.07%) were found to have the South East Asian α-thalassemia-1 haplotype (ζζ--SEA/ζζαα) with increased Hb Bart’s levels ranging from 2.2 to 9%. One case, with Hb Bart’s level of 14% in the cord blood, was found to have the genotype of ζζ--SEA/ζζααΤ (0.46%). Four heterozygotes (1.84%) were found with the triple α gene antirightward arrangement (ζζααα3.7/ζζαα). Twenty-one heterozygotes (9.68%) were found to have the triple ζ-globin gene arrangement (ζζζαα/ζζαα). A new triple ζ-globin gene variant with a BamHI polymorphism was also observed in this study.