Thalassaemia intermedia: a new molecular basis

Br J Haematol. 1984 Feb;56(2):333-7. doi: 10.1111/j.1365-2141.1984.tb03960.x.

Abstract

A 5-year-old child heterozygous for beta thalassaemia has the clinical picture of thalassaemia intermedia. Restriction endonuclease mapping shows that the child is homozygous for a triplicated alpha gene complex. The greater degree of globin chain imbalance resulting from two additional alpha chain genes is the likely mechanism for this unusually severe clinical phenotype.

Publication types

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

MeSH terms

  • Child, Preschool
  • Chromosome Mapping
  • DNA / blood
  • DNA Restriction Enzymes
  • Genes
  • Globins / biosynthesis
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA
  • DNA Restriction Enzymes