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Title: α-Thalassemia and the production of different α chain variants in heterozygotes
Authors: Felice, Alex E.
Webber, Brooke B.
Huisman, Titus Hendrik Jan
Keywords: Thalassemia
Human genetics -- Variation
Issue Date: 1981
Publisher: Springer
Citation: Felice, A. E., Webber, B. B., & Huisman, T. H. J. (1981). α-Thalassemia and the production of different α chain variants in heterozygotes. Biochemical Genetics, 19(5-6), 487-498.
Abstract: The production of five α chain variants (Hb G-Georgia, Hb St. Luke's, Hb Lloyd, Hb Montgomery, and Hb G-Philadelphia) in heterozygotes was evaluated through hematological observations, hemoglobin quantification, and biosynthetic studies. All heterozygotes for Hb St. Luke's and Hb Lloyd and most heterozygotes with Hb G-Georgia and Hb Montgomery had normal hematology and average σα/β values of about 1.1. They were assigned a normal genotype (ααG/αα), although the proportions of Hb St. Luke's and Hb G-Georgia were low (10 to 13%) and those of Hb Lloyd and Hb Montgomery twice as high (20%). Data from short-term incubations confirmed this genotype for some of these heterozygotes. Isolated Hb St. Luke's and Hb G-Georgia gave low αG/β values (0.2 and 0.3) indicating that these Hb variants were defective at the level of Hb assembly. Isolated Hb Montgomery and Hb G-Philadelphia, however, gave higher αG/β values of 0.6 and 0.8, respectively. A second type of variability existed among Hb G-Georgia (20 vs. 13%), Hb Montgomery (28 vs. 20%), and Hb G-Philadelphia (47 vs. 34%) heterozygotes, in whom the levels of Hb G differed. The occurrence of higher levels of these three α chain heterozygosities was associated with hematological or biosynthetic evidence of a mild or moderate α chain deficiency due to an α-thalassemia-2 heterozygosity (ααG/α0α or α0αG/αα) or a homozygosity (α0αG/α0α), respectively.
Description: We thank S. M. Mayson, M. Gravely, A. Miller, and A. Galea for capable technical assistance. We are grateful to Dr. J. L. Grech for organizing the collections in Malta.
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