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Delta beta-thalassaemia in southern Italy: evidence for a single mutational event.
  1. A Carè,
  2. N M Sposi,
  3. A Giampaolo,
  4. T Improta,
  5. M Calandrini,
  6. M Petrini,
  7. M Marinucci,
  8. A Tagarelli,
  9. C Brancati

    Abstract

    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 underlying delta beta-thalassaemia is a large deletion starting from the large intervening sequence of the delta gene and extending downstream from the beta gene. The possibility that delta beta-thalassaemia haplotypes in southern Italy originated from a single mutational event is discussed.

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