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beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.
  1. L Del Senno,
  2. M Pirastu,
  3. R Barbieri,
  4. F Bernardi,
  5. D Buzzoni,
  6. G Marchetti,
  7. C Perrotta,
  8. C Vullo,
  9. Y W Kan,
  10. F Conconi

    Abstract

    Six beta(+)-thalassaemic patients from the Po river delta region have been studied. Using synthetic oligonucleotides as specific hybridisation probes, the beta(+) IVS I mutation (G----A at position 108) was demonstrated. This lesion and the enzyme polymorphism pattern in the subjects examined are the same as have been described for other Mediterranean beta(+)-thalassaemias. Antenatal diagnosis through DNA analysis of beta(+)-thalassaemia is therefore possible. The production of beta globin in a beta(+), homozygote and in a beta (+), beta(0) 39 (nonsense mutation at codon 39) double heterozygote is approximately 20% and 10% respectively of total non-alpha globin synthesis. Despite some overlapping of the results, similar beta globin synthesis levels have been obtained in 43 beta(+)-thalassaemia patients. This suggests that in the Po river delta region the most common thalassaemic genes are beta(0) 39 and beta(+) IVS I.

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