Molecular basis for mild forms of homozygous beta-thalassaemia

Lancet. 1981 Mar 7;1(8219):527-9. doi: 10.1016/s0140-6736(81)92864-6.

Abstract

Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of beta-thalassaemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Deletion
  • Cyprus
  • Female
  • Globins / genetics*
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Thalassemia / genetics*

Substances

  • Globins