The identification of beta-thalassemia mutants in Brazilians with high Hb F levels

Abstract

Hemoglobinopathies are a heterogeneous group of genetic disorders which represent a public health problem, with significant morbidity, in countries where the prevalence is high. This study aimed at identifying molecular abnormalities that might explain the laboratorial profile obtained using electrophoresis and high performance liquid chromatography in a group of individuals without signs or clinical symptoms of anemia. Five different mutations for beta-thalassemia were found using PCR-ASO: three cases with CD 6 (-A), one CD 39, one IVI I-6, one -87 (mutations originating in the Mediterranean region) and one IVS II-654 (mutation originating in Asia). This is the first time that the CD 6 (-A), -87 and IVS II-654 mutations have been described in the Brazilian population. Rev. Bras. Hematol. Hemoter. 2010;32(3):215-218. Palavras-chave:Beta-thalassemia; fetal hemoglobin; molecular biology.

Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/beta-thalassemia

“…The most prevalent allele found in the present study was CD39 C>T, corroborating previous studies carried out in the Southeastern region of Brazil. 13 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 In the Mediterranean population, this variant accounts for the second most common one. 4 …”