Different molecular defects of G gamma (A gamma delta beta)o-thalassaemia in Thailand

Eur J Haematol. 1987 Aug;39(2):154-60.

Abstract

DNA from members of 2 Thai families with conditions considered to be delta beta-thalassaemia were studied by using restriction endonuclease DNA mapping. The propositus in family A is a double heterozygote for beta-thalassaemia and delta beta-thalassaemia. DNA analysis reveals a deletion of the beta-globin gene cluster starting at the area between the Sac I and Eco RI sites near the 3' end of the G gamma-gene and extending through the A gamma-, delta- and beta-genes to an unknown extent downstream. In family B, the propositus is delta beta-thalassaemia/Hb E. Deletion of the beta-globin gene cluster begins in the large intervening sequence of the A gamma-gene and removes both delta- and beta-genes downstream.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Deletion*
  • Globins / genetics*
  • Hemoglobins, Abnormal / analysis
  • Heterozygote
  • Humans
  • Introns
  • Polymorphism, Restriction Fragment Length
  • Thailand
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins