title: The Molecular Spectrum of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy.
abstract: The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S (HBB: c.20A>T)/β-thal and 85.0% compound heterozygotes for hemoglobin (Hb) variant-carrying patients were diagnosed or molecularly characterized in the last 3 years. Moreover, most homozygous or compound heterozygous patients (84.5%) came from foreign countries, while only 15.5% were of Italian origin. These data are in accordance with the increasing foreign resident population in Umbria, which has nearly doubled in 10 years (2004-2014). Different from β-globin gene variations, no increasing trend in α defects was observed in our study cohort. Consistently, 58.0% of patients have an Italian origin, suggesting no broad influence of foreign migration in the α-globin genes genetic background. As few defects are prevalent in each country of origin or ethnic group, their knowledge may provide a proper strategy for the identification of mutations in immigrant individuals in a non-endemic region and be important for carrier identification and prenatal screening.
authors.affiliation: a Dipartimento di Medicina, Ematologia , Università degli Studi di Perugia , Perugia , Italia.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.affiliation: b Oncoematologia Pediatrica , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Francesco
authors.initials: F
authors.lastname: Arcioni
authors.affiliation: c Dipartimento di Scienze Cliniche e Biologiche , Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga , Torino , Italia.
authors.forename: Antonietta
authors.initials: A
authors.lastname: Palmieri
authors.affiliation: a Dipartimento di Medicina, Ematologia , Università degli Studi di Perugia , Perugia , Italia.
authors.forename: Ylenia
authors.initials: Y
authors.lastname: Barbanera
authors.affiliation: a Dipartimento di Medicina, Ematologia , Università degli Studi di Perugia , Perugia , Italia.
authors.forename: Laura
authors.initials: L
authors.lastname: Ceccuzzi
authors.affiliation: d Servizio Immunotrasfusionale , Ospedale Santa Maria della Misericordia , Terni , Italia.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Adami
authors.affiliation: e Servizio Immunotrasfusionale , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Mauro
authors.initials: M
authors.lastname: Marchesi
authors.affiliation: f Clinica Pediatrica , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Antonella
authors.initials: A
authors.lastname: Angius
authors.affiliation: e Servizio Immunotrasfusionale , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Olivia
authors.initials: O
authors.lastname: Minelli
authors.affiliation: e Servizio Immunotrasfusionale , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Marina
authors.initials: M
authors.lastname: Onorato
authors.affiliation: c Dipartimento di Scienze Cliniche e Biologiche , Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga , Torino , Italia.
authors.forename: Antonio
authors.initials: A
authors.lastname: Piga
authors.affiliation: b Oncoematologia Pediatrica , Ospedale Santa Maria della Misericordia , Perugia , Italia.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Caniglia
authors.affiliation: a Dipartimento di Medicina, Ematologia , Università degli Studi di Perugia , Perugia , Italia.
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
authors.affiliation: c Dipartimento di Scienze Cliniche e Biologiche , Università degli Studi di Torino, Azienda Ospedaliera Universitaria San Luigi Gonzaga , Torino , Italia.
authors.forename: Antonella
authors.initials: A
authors.lastname: Roetto
mesh_terms: D054242:Emigrants and Immigrants; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
keywords: Hemoglobinopathies; Italy; hemoglobin (Hb) variants; sickle cell disease; thalassemias