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BioMed Research International
Volume 2015, Article ID 517679, 3 pages
http://dx.doi.org/10.1155/2015/517679
Research Article

Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study

1Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
2Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon

Received 2 June 2014; Revised 2 January 2015; Accepted 28 January 2015

Academic Editor: Aldo Filosa

Copyright © 2015 Chantal Farra 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.

Abstract

Background. It is well established that the Mediterranean and Arab populations are at high risk for thalassemias in general and for alpha-thalassemia in particular. Yet, reports on alpha-thalassemia in Lebanon are still lacking. In this study, we aim at assessing the incidence of alpha-thalassemia in the Lebanese population. Methods. 230 newborns’ dried blood cards remaining from routine neonatal screening at the American University of Beirut Medical Center were collected for DNA extraction. Samples were screened for the 21 most common α-globin deletions and point mutations reported worldwide, through multiplex Polymerase Chain Reaction (PCR) and Reverse-Hybridization technique. Results. Upon analyses, the carrier rate of α-thalassemia was found to be 8%. Two mutations detected the −α3,7 single gene deletion found in 75% of cases and the nongene deletion α2 IVS1 [−5nt] in the remaining samples. Conclusion. This study is the first dedicated to investigate α-thalassemia trait incidence in Lebanon. Data obtained demonstrates a high carrier rate in a relatively, highly consanguineous population; it also highlighted the presence of two common mutations. These results may be of an important impact on premarital and newborn screening policies in our country.