title: Identification of several alpha-globin gene variations in a small Laotian family.
abstract: The present study concerns the identification of four alpha-globin gene deficiencies, one alpha 1-globin gene mutation, and one beta-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 alpha 2-gene (Hb Constant Spring or CS) on the other chromosome. Moreover, the remaining alpha 1-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 alpha 2-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.
authors.affiliation: Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100, USA.
authors.forename: N S
authors.initials: NS
authors.lastname: Smetanina
authors.forename: J Y
authors.initials: JY
authors.lastname: Leonova
authors.forename: N
authors.initials: N
authors.lastname: Levy
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007812:Laos; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D006454:Hemoglobins; D005914:Globins