Estudio de las mutaciones CD39 e IVS1-110 causantes de β-talasemia mediante ARMS-PCR.

β-thalassemias derive from a decrease in the synthesis of β-globin chains, being caused by different mutations in the β-globin gene. the molecular detection of these mutations allows the β-thalassemic genotype determination and therefore, a precise diagnosis and the underlying treatment. the aim of this study was to study the two most common finding mutations in the argentinean population, cd39 and ivs1-110 mutations in the β-globin gene, by the arms-pcr technique. in 50 patients analyzed, three were positive for the cd39 mutation, corresponding to 6 % of the cases, while no patients with the ivs1-110 mutation were detected. this study provides new data on the frequency of genotypes (β/βcd39 and p / βivs1-110) responsible for β-thalassemia heterozygote in our region.