Abstract
To evaluate the allelic frequency and genetic diversity of α-thalassemia defects in Sicily, both epidemiological and patient-oriented studies were carried out. For the epidemiological study, phenotypic data were collected on more than 1000 Sicilian individuals. Among them, 427 were explored at the molecular level for nine α-thalassemic variants known to be common in the Mediterranean region. Our data reveal an allele frequency of 4.1% for α+-thalassemia matching that of β-thalassemia in this region. The presence of α°-thalassemia (––MEDI and ––CAL) was observed only in the group of referred patients. Newly acquired nucleotide sequence data on the deletional breakpoint of ––CAL allowed us to design a simple PCR-based procedure for exploring this allele. The data also provide additional information concerning the genetic mechanisms involved in such large deletions.
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Received: 8 August 1996 / Revised: 16 October 1996
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Fichera, M., Spalletta, A., Fiorenza, F. et al. Molecular basis of α-thalassemia in Sicily. Hum Genet 99, 381–386 (1997). https://doi.org/10.1007/s004390050376
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DOI: https://doi.org/10.1007/s004390050376