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Advances in Hematology
Volume 2010 (2010), Article ID 317542, 5 pages
Clinical Study

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

1ANMI Onlus, Centro Studi Microcitemie, Rome, Italy
2Department of Comparative Biomedical Sciencies, University of Teramo, Italy

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 the native population in 1995. Since a few defects are prevalent in each country, a proper strategy for the identification of mutations in immigrant individuals relies on the prior knowledge of their frequency in native ethnic group.