title: Molecular basis of alpha-thalassemia in Sicily.
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 alpha-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 alpha0-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.
authors.affiliation: Laboratorio di Ematologia, Istituto Oasi (I.R.C.C.S.), Troina, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Fichera
authors.forename: A
authors.initials: A
authors.lastname: Spalletta
authors.forename: F
authors.initials: F
authors.lastname: Fiorenza
authors.forename: T
authors.initials: T
authors.lastname: Lombardo
authors.forename: G
authors.initials: G
authors.lastname: Schilirò
authors.forename: R
authors.initials: R
authors.lastname: Tamouza
authors.forename: C
authors.initials: C
authors.lastname: Lapouméroulie
authors.forename: D
authors.initials: D
authors.lastname: Labie
authors.forename: A
authors.initials: A
authors.lastname: Ragusa
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D012802:Sicily / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D004247:DNA