BETA-THALASSEMIA AND HEMOGLOBIN TYPES IN ARGENTINA - DETERMINATION OFMOST FREQUENT MUTATIONS

In order to know the spectrum of beta-thalassemia alleles and other mu tations affecting the beta-globin gene, we analyzed the hemoglobin abn ormalities in 24 patients from the Province of Cordoba in Argentina. M olecular screening of samples was performed by the polymerase chain re action (PCR), using six sets of oligonucleotides to amplify fragments encompassing the whole beta-globin coding region and splice junctions, as well as the promoter and 3' untranslated regions. The altered frag ments were determined by denaturing gradient gel electrophoresis (DGGE ), and the corresponding mutations were identified by restriction enzy me analysis or by direct sequencing of PCR products. Using this approa ch, three different beta-thalassemia mutations were detected, codon 39 (C-->T), IVS-1-110 (G-->A), and IVS-1-1 (G-->A), and also the hemoglo bin S trait. This is the first report of beta-thalassemia mutations de scribed in Argentina. Our results show that these mutations are simila r to those found in Spain and Italy, possibly due to the important Med iterranean migratory stream received in our country, and could be impo rtant for prenatal diagnosis of these diseases in Cordoba, Argentina. (C) 1997 Wiley-Liss, Inc.