Molecular characterization of β-thalassemia genes in an Argentine population

✍ Scribed by Roldán, Ariel; Gutiérrez, Marina; Cygler, Ana; Bonduel, Mariana; Sciuccati, Gabriela; Torres, Aurora Feliu

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 59 KB
• Volume: 54
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199703)54:3<179::aid-ajh1>3.0.co;2-t

✦ Synopsis

This study was designed to identify the ␤-thalassemia mutations in an Argentine population. Seventy-one pediatric patients and 101 available relatives were studied (85 chromosomes). Diagnosis of ␤-thalassemia was made by conventional hematological procedures. Molecular studies were carried out by dot-blot and restriction endonuclease analysis on amplified DNA to detect the eight most frequent mutations in the Mediterranean area. We were able to identify 95.3% of the ␤-thalassemia mutations in the subjects under study. The four common defects (C-39, 47%; IVS-I nt 110, 22.4%; IVS-I nt 1, 9.4%; and IVS-I nt 6, 5.9%) account for 84.7% of the ␤-thalassemia alleles. The alleles and their distributions showed a close similarity to the spectrum of alleles in Italy. The differences might represent the influence of other immigrations, especially from Spain. We conclude that ␤-thalassemia in Argentina originated mainly from Italian immigrants. This study will enable us to design an adequate approach to genetic counseling and/or prenatal diagnosis for couples at risk. Am.