Quantities of alpha Q chain variants in heterozygotes with and without a concomitant beta-thalassemia trait

Am J Hematol. 1994 Jan;45(1):91-3. doi: 10.1002/ajh.2830450116.

Abstract

We have analyzed the quantities of alpha x chain-containing hemoglobins (alpha 2 x beta 2 and alpha 2 x delta 2) in 14 heterozygotes for Hb Q-India [alpha 64(E13)Asp-->His] or Hb Q-Thailand [alpha 74(EF3)Asp-->His]; both amino acid replacements are the result of mutations in the alpha 1-globin gene. Five of these persons (three with Hb Q-India and two with Hb Q-Thailand) had an additional beta(0)-thalassemia heterozygosity. The average quantities for Hb Q + Hb Q2 in the four groups were 17.2% (alpha alpha Q/alpha alpha; beta A/beta A), 9.5% (alpha alpha Q/alpha alpha; beta A/beta(0) Th), 26.8% (-alpha Q/alpha alpha; beta A/beta A), and 16.95% (-alpha Q/alpha alpha; beta A/beta(0) Th). These variations can best be explained by a posttranslational control mechanism; an imbalance in the alpha A, alpha Q, and beta A chain ratio will favor the alpha 2 Q beta 2 formation when an alpha-thalassemia is present and will reduce its formation in the presence of a beta-thalassemia heterozygosity.

MeSH terms

  • Adolescent
  • Adult
  • Canada
  • China
  • Codon
  • Female
  • Globins / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Heterozygote*
  • Humans
  • India / ethnology
  • Male
  • Middle Aged
  • Mutation
  • South Africa
  • beta-Thalassemia / blood*
  • beta-Thalassemia / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Q Thailand
  • hemoglobin Q India
  • Globins