Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.

@article{Cao1991ThalassemiasIS,
  title={Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.},
  author={Antonio Cao and Cristina Rosatelli and Mario Pirastu and Renzo Galanello},
  journal={The American journal of pediatric hematology/oncology},
  year={1991},
  volume={13 2},
  pages={179-88}
}
This article reviews the molecular bases of alpha- and beta-thalassemias in Sardinia. In addition, it describes the characteristics and the effects of a genetic program designed to prevent homozygous beta-thalassemia. In the large majority of the cases (95.7%), beta-thalassemia is caused by the nonsense mutation at codon 39, followed by frameshifts at codon 6 (2.1%). Homozygous beta-thalassemia most commonly results in thalassemia major, but in a small proportion this genotype produces milder… CONTINUE READING
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