Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations

Clin Lab Haematol. 1992;14(4):289-92.

Abstract

In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a delta+27-thalassaemia point mutation, which in trans to the beta zero 39 defect invariably normalizes the HbA2 levels.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Female
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Multigene Family*
  • Phenotype
  • Thalassemia / genetics*
  • beta-Thalassemia / genetics

Substances

  • Globins