Abstract

ACOSTA, Karina B et al. Study of CD39 and D/S1-110 mutations causing beta thalassemia by ARMS-PCR. Rev. cienc. tecnol. [online]. 2010, n.14, pp.19-34. ISSN 1851-7587.

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/β^CD39 and p / β^IVS1-110) responsible for β-thalassemia heterozygote in our region.

Keywords : β-thalassemias; Mutations; Genotype; Diagnosis; ARMS-PCR.

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