A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia

J Med Genet. 1984 Apr;21(2):153-6. doi: 10.1136/jmg.21.2.153.

Abstract

This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Female
  • Globins / genetics*
  • Hemoglobin A2 / genetics
  • Humans
  • Male
  • Phenotype
  • Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin A2