title: The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island.
abstract: The aim of this study is to update the incidence and the distribution of the globin gene defects causing β-thalassemia and abnormal hemoglobins in Sicily. The data derived from a total of 8875 beta-thalassemia alleles and 1330 variant hemoglobin chromosomes studied in Sicily from 1990 during a hemoglobinopathy control program. Fifty-four beta-globin gene defects were characterized, involving 30 different beta-thalassemia mutations and 24 variant hemoglobins. Eight of 30 β-thalassemia defects accounted for 95.11% of examined alleles while other beta-globin gene defects were found at lower frequencies (<1%). A consistent number (24) of variant hemoglobins were identified of whom Hb S was the most represented (72.1%). Our data underline the heterogeneity of the beta-globin gene defects in the Sicily. The enormous progress in the technique for β-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management. The origin of the large spectrum of mutations is discussed taking in consideration the history of the island.
authors.affiliation: U.O.C. Ematologia II, A.O.R. Villa Sofia-Cervello, Palermo, Italy. giambic@libero.it
authors.forename: Antonino
authors.initials: A
authors.lastname: Giambona
authors.forename: Margherita
authors.initials: M
authors.lastname: Vinciguerra
authors.forename: Monica
authors.initials: M
authors.lastname: Cannata
authors.forename: Filippo
authors.initials: F
authors.lastname: Cassarà
authors.forename: Germana
authors.initials: G
authors.lastname: Fiorentino
authors.forename: Filippo
authors.initials: F
authors.lastname: Leto
authors.forename: Pina Lo
authors.initials: PL
authors.lastname: Gioco
authors.forename: Disma
authors.initials: D
authors.lastname: Renda
authors.forename: Cristina
authors.initials: C
authors.lastname: Passarello
authors.forename: Aurelio
authors.initials: A
authors.lastname: Maggio
mesh_terms: D004641:Emigration and Immigration; D018740:Genetic Heterogeneity; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012802:Sicily / Q000453:epidemiology; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins