Spectrum of beta-thalassemia mutations in Calabria: implications for prenatal diagnosis

Am J Hematol. 1995 Feb;48(2):128-9. doi: 10.1002/ajh.2830480213.

Abstract

Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize beta-thalassemic mutations in 91 homozygous patients and 86 unrelated carriers. Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, confirming the wide molecular heterogeneity of beta-thalassemia in Calabria. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detection of mutations in Calabria.

MeSH terms

  • Codon
  • Female
  • Frameshift Mutation
  • Heterozygote
  • Homozygote
  • Humans
  • Italy
  • Mutation*
  • Pregnancy
  • Prenatal Diagnosis*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*

Substances

  • Codon