The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island.
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| Abstract |
The aim of this study is to update the incidence and the distribution of the globin gene defects causing β-thalassemia and abnormal hemoglobins in Sicily. The data derived from a total of 8875 beta-thalassemia alleles and 1330 variant hemoglobin chromosomes studied in Sicily from 1990 during a hemoglobinopathy control program. Fifty-four beta-globin gene defects were characterized, involving 30 different beta-thalassemia mutations and 24 variant hemoglobins. Eight of 30 β-thalassemia defects accounted for 95.11% of examined alleles while other beta-globin gene defects were found at lower frequencies (<1%). A consistent number (24) of variant hemoglobins were identified of whom Hb S was the most represented (72.1%). Our data underline the heterogeneity of the beta-globin gene defects in the Sicily. The enormous progress in the technique for β-globin gene analysis permitted to characterize 99.93% of mutated alleles and it has made a first trimester prenatal diagnosis program possible in our region in all cases with a great improvement in thalassemia management. The origin of the large spectrum of mutations is discussed taking in consideration the history of the island.
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| Authors | Antonino Giambona, Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Germana Fiorentino, Filippo Leto, Pina Lo Gioco, Disma Renda, Cristina Passarello, Aurelio Maggio |
| Journal | Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 46 Issue 4 Pg. 282-7 (Apr 15 2011) ISSN: 1096-0961 [Electronic] United States |
| PMID | 21353607 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Copyright © 2011 Elsevier Inc. All rights reserved. |
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