gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man

Nature. 1980 Feb 14;283(5748):637-42. doi: 10.1038/283637a0.

Abstract

In gamma-beta-thalassaemia, human gamma- and beta-globin gene expression is suppressed; this results in a severe anaemia in newborns which subsequently develops into a beta-thalassaemia syndrome in adult life. This hereditary disease is now shown to be the result of a deletion of at least 40,000 base pairs of the gammadeltabeta-globin gene locus. The gamma- and delta-globin genes are deleted in the affected chromosome but, surprisingly, the beta-globin gene is still present, together with a large segment of the DNA sequences flanking the gene on its 5'-side and the entire region on the 3'-side of the gene. Hence, a deletion of DNA far from the beta-globin gene results in the suppression of its activity.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / genetics
  • DNA Restriction Enzymes
  • Female
  • Fetal Hemoglobin / genetics
  • Genes*
  • Globins / genetics*
  • Hemoglobin A / genetics
  • Humans
  • Molecular Weight
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA
  • Hemoglobin A
  • Fetal Hemoglobin
  • DNA Restriction Enzymes