β-thalassemia and hemoglobin types in Argentina: Determination of most frequent mutations

✍ Scribed by Soria, Néstor W.; Tulián, Clara L.; Plassa, François; Roth, German A.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 93 KB
• Volume: 54
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199702)54:2<160::aid-ajh11>3.0.co;2-j

✦ Synopsis

In order to know the spectrum of ␤-thalassemia alleles and other mutations affecting the ␤-globin gene, we analyzed the hemoglobin abnormalities in 24 patients from the Province of Co ´rdoba in Argentina. Molecular screening of samples was performed by the polymerase chain reaction (PCR), using six sets of oligonucleotides to amplify fragments encompassing the whole ␤-globin coding region and splice junctions, as well as the promoter and 3Ј untranslated regions. The altered fragments were determined by denaturing gradient gel electrophoresis (DGGE), and the corresponding mutations were identified by restriction enzyme analysis or by direct sequencing of PCR products. Using this approach, three different ␤-thalassemia mutations were detected, codon 39 (CrT), IVS-1-110 (GrA), and IVS-1-1 (GrA), and also the hemoglobin S trait. This is the first report of ␤-thalassemia mutations described in Argentina. Our results show that these mutations are similar to those found in Spain and Italy, possibly due to the important Mediterranean migratory stream received in our country, and could be important for prenatal diagnosis of these diseases in Co ´rdoba, Argentina. Am.