Biochemical Genetics

, Volume 19, Issue 5–6, pp 487–498 | Cite as

α-Thalassemia and the production of different α chain variants in heterozygotes

  • A. E. Felice
  • B. B. Webber
  • T. H. J. Huisman
Article

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 (ααG0α or α0αG/αα) or a homozygosity (α0αG0α), respectively.

Key words

Hb α chain variants α-thalassemia Hb synthesis Hb genetics posttranslational control 

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Copyright information

© Plenum Publishing Corporation 1981

Authors and Affiliations

  • A. E. Felice
    • 1
  • B. B. Webber
    • 1
  • T. H. J. Huisman
    • 1
  1. 1.Department of Cell and Molecular Biology (Contribution #0591), Medical College of GeorgiaHemoglobin Research Laboratory, Veterans Administration Hospital, and Comprehensive Sickle Cell Center and Laboratory of Protein ChemistryAugusta

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