title: Molecular characterization of beta-thalassemia genes in an Argentine population.
abstract: This study was designed to identify the beta-thalassemia mutations in an Argentine population. Seventy-one pediatric patients and 101 available relatives were studied (85 chromosomes). Diagnosis of beta-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 beta-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 beta-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 beta-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.
authors.affiliation: Department of Hemato-Oncology, Hospital de Pediatria Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.
authors.forename: A
authors.initials: A
authors.lastname: Roldán
authors.forename: M
authors.initials: M
authors.lastname: Gutiérrez
authors.forename: A
authors.initials: A
authors.lastname: Cygler
authors.forename: M
authors.initials: M
authors.lastname: Bonduel
authors.forename: G
authors.initials: G
authors.lastname: Sciuccati
authors.forename: A F
authors.initials: AF
authors.lastname: Torres
mesh_terms: D000328:Adult; D000483:Alleles; D001118:Argentina / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005914:Globins / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins