Characterization of an Indian (delta beta)0 thalassaemia

Br J Haematol. 1984 Oct;58(2):353-60. doi: 10.1111/j.1365-2141.1984.tb06094.x.

Abstract

The molecular basis of delta beta thalassaemia in an Indian family is shown here to be due to a previously undescribed deletion within the beta globin gene complex. Starting 3 kilobases from the 3' end of the A gamma gene, the deletion removes the delta and beta globin genes and continues to an unknown extent in the 3' direction. Heterozygotes for this deletion have about 25% Hb F with a G gamma:A gamma ratio of 70:30 while interaction with beta+ thalassaemia results in the clinical picture of thalassaemia intermedia.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosome Mapping
  • Female
  • Globins / genetics*
  • Humans
  • Pedigree
  • Phenotype
  • Thalassemia / genetics*

Substances

  • Globins