Current Genetic Epidemiology of -Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements.pdfVIP

Hindawi Publishing Corporation Advances in Hematology Volume 2010, Article ID 317542, 5 pages doi:10.1155/2010/317542 Clinical Study Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements Antonio Amato,1 Maria Pia Cappabianca,1 Alessia Colosimo,2 Maria Perri,1 Paola Grisanti,1 Ivo Zaghis,1 Donatella Ponzini,1 and Maria Lerone1 1ANMI Onlus, Centro Studi Microcitemie, Rome, Italy 2 Department of Comparative Biomedical Sciencies, University of Teramo, Italy Correspondence should be addressed to Antonio Amato, microcitemieroma@ Received 10 December 2009; Revised 5 July 2010; Accepted 30 August 2010 Academic Editor: Frits R. Rosendaal Copyright © 2010 Antonio Amato et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The aim of this study was to describe the changing pattern of mutational spectrum of β -thalassemia (β -thal) in the Lazio region (Central Italy), as consequence of recent demographic variations. From 1994 until present, 256 immigrant subjects with hemoglobin disorders (including 191 heterozygotes and 65 homozygotes or compound heterozygotes) coming from 44 different foreign countries, have been molecularly characterized. 14 β -globin gene mutations were identified and their frequencies reflect different ethnic origins: 8 of these mutations account for 76.97% of all molecular defects, while 6 of them are much rare, representing less than 2% of the total. These data differ, both in type and percentage, from the mutational spectrum detected in