p-Thalassemias are very heterogeneous at the clinical and molecular level. Clinically, we distinguish four clinical-hematological conditions of increasing severity, i.e., silent p-thalassemia, the p-thalassemia carrier state, thalassemia intermedia, and thalassemia major. At molecular level, p-thalassemias result from more than 200 different molecular defects. Molecular detection is possible with several PCR-based procedures. Preconception and prenatal diagnosis is available. Carrier screening and genetic counseling in the Mediterranean population at risk have led to a dramatic decrease in the birth rate of homozygous p-thalassemia. Treatment, based on periodic transfusion and iron chelation, has resulted in extended survival. Bone marrow transplantation from HLA identical siblings results in a >90% disease-free survival in patients in good clinical conditions. The lentivirus-mediated transfer of the p-globin or g-globin gene in a thalassemic mouse has recently produced encouraging results.
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