To evaluate the allelic frequency and genetic diversity of alpha-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 a-thalassemic variants known to be common in the Mediterranean region. Our data reveal an allele frequency of 4.1% for alpha(+)-thalassemia matching that of beta-thalassemia in this region. The presence of alpha degrees-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.

Molecular basis of alpha-thalassemia in Sicily

FICHERA, Marco;
1997

Abstract

To evaluate the allelic frequency and genetic diversity of alpha-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 a-thalassemic variants known to be common in the Mediterranean region. Our data reveal an allele frequency of 4.1% for alpha(+)-thalassemia matching that of beta-thalassemia in this region. The presence of alpha degrees-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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/45165
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