Abstract
The present study concerns the identification of four α-globin gene deficiencies, one α1-globin gene mutation, and one β-globin gene mutation in a Laotian couple and their newborn baby. The parents were Hb E heterozygotes and the baby was an Hb E homozygote. The father carried the 4.2-kb deletion on one chromosome and a TAA→CAA mutation at the terminating codon of the α2-gene (Hb Constant Spring or CS) on the other chromosome. Moreover, the remaining α1-globin gene on the chromosome with the 4.2-kb deletion was mutated at codon 74 (GAC → CAC; Asp → His; Hb Q-Thailand). The mother had the 3.7-kb deletion on one chromosome and a TAA→TAT mutation at the terminating codon of the α2-globin gene (Hb Paksé) of the second chromosome. The baby was a compound heterozygote for the two termination codon mutations and, at birth, had a high level of Hb Bart’s (16.6%) reflecting a mild form of Hb H disease.