Delta beta-thalassaemia in southern Italy: evidence for a single mutational event.

@article{Car1984DeltaBI,
  title={Delta beta-thalassaemia in southern Italy: evidence for a single mutational event.},
  author={Alessandra Car{\`e} and Nadia Maria Sposi and Adele Giampaolo and T Improta and M Calandrini and Mario Petrini and Massimiliano Marinucci and Antonio Tagarelli and Carlo Brancati},
  journal={Journal of medical genetics},
  year={1984},
  volume={21 2},
  pages={117-20}
}
Haematological and molecular studies on 32 heterozygotes for G gamma A gamma delta beta(0)-thalassaemia from 15 unrelated families from southern Italy are reported. The haematological features of G gamma A gamma delta beta(0)-thalassaemia carriers are compared with those of beta-thalassaemia and Hb Lepore heterozygotes. Striking similarity exists between the phenotypic expression of beta-thalassaemia and Lepore mutations. Globin gene mapping studies indicated that the molecular lesion… CONTINUE READING