title: Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers.
abstract: Detailed hematologic and molecular analyses were carried out on a cohort of Sicilian individuals with suspected or asymptomatic beta-thalassemia. Iron deficiency, mild beta-thalassemia alleles and most common Mediterranean alpha-globin deletional mutations were excluded. All negative individuals were then tested for alpha-thalassemia point mutations by a denaturing high-performance liquid chromatography (DHPLC)-based assay. Four rare alpha-globin variants (Hb Interlaken, Hb Chesapeake, Hb Lombard, Hb Sun Prairie) and one point mutation (polyA: AATAAA-G in alpha2) were identified in 15 out of 80 carriers. Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants.
authors.forename: Valentina
authors.initials: V
authors.lastname: Guida
authors.forename: Alessia
authors.initials: A
authors.lastname: Colosimo
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Turiddu
authors.initials: T
authors.lastname: Lombardo
authors.forename: Luciana
authors.initials: L
authors.lastname: Rigoli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D015331:Cohort Studies; D006580:Genetic Carrier Screening; D006801:Humans; D012802:Sicily / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*