Comparative in vivo expression of beta(+)-thalassemia alleles

Hemoglobin. 1999 Aug;23(3):221-9. doi: 10.3109/03630269909005702.

Abstract

Double heterozygotes who inherit one abnormal though stable beta-globin variant in association with a molecularly identified beta(+)-thalassaemia allele provide unique opportunities to quantify the in vivo expression of particular beta(+)-thalassemia alleles. The globin products of the two alleles can be separated, quantified and the output of the beta(+)-thalassaemia allele expressed as the MCH-beta(A) in pg beta(A)-globin/beta(+)-thalassemia allele/RBC = 0.5 MCH x Hb A%. In this communication we provide new quantitative data on the expression of five mutations as follows: the beta(+)-87 (C-->G) = 3.8 pg beta(A)-globin/beta(+)-thalassemia allele/RBC (n = 1); the beta(+) IVS-I-1 (G-->A) = 0.2 pg beta(A)-globin/beta(+)-thalassemia allele/RBC (n = 1); the beta(+) IVS-I-6 (T-->C) = 2.9 pg beta(A)-globin/beta(+)-thalassemia allele/RBC (n = 7); the beta(+) IVS-I-110 (G-->A) = 1.1 pg beta(A)-globin/beta(+)-thalassemia allele/RBC (n = 13), and the beta(+) IVS-II-745 (C-->G) = 1.74 pg beta(A)-globin/beta(+)-thalassemia allele/RBC (n = 2). The values obtained are compared with those of other beta(+)-thalassemia alleles from the literature. It can be seen that the MCH-beta(A) value may be a correct index of thalassemia severity useful for the correlation of genotype with phenotype, and for understanding the effects of mutations in beta-globin genes on pathophysiologically meaningful beta-globin gene expression.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Female
  • Genetic Variation
  • Genotype
  • Globins / analysis*
  • Globins / genetics*
  • Hematologic Tests
  • Hemoglobins / analysis
  • Hemoglobins / chemistry
  • Hemoglobins / genetics
  • Hemoglobins, Abnormal / analysis
  • Hemoglobins, Abnormal / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Italy / epidemiology
  • Libya / epidemiology
  • Male
  • Malta / epidemiology
  • Middle Aged
  • Mutation
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins
  • Hemoglobins, Abnormal
  • Globins