Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil

Author(s)

Luna da Silveira, Zama Messala ^[1] ; Barbosa, Maria das Vitorias ^[1] ; Araujo de Medeiros Fernandes, Thales Allyrio ^[2] ; Kimura, Elza Miyuki ^[3] ; Costa, Fernando Ferreira ^[4] ; Sonati, Maria de Fatima ^[3] ; Moretti Rebecchi, Ivanise Marina ^[1] ; Dantas de Medeiros, Tereza Maria ^[1]

Affiliation

^[1] Univ Fed Rio Grande do Norte, Dept Anal Clin & Toxicol, BR-59010180 Natal, RN - Brazil

^[2] Univ Estado Rio Grande do Norte, Dept Ciencias Biomed, Mossoro, RN - Brazil

^[3] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Campinas, SP - Brazil

^[4] Univ Estadual Campinas, Hemoctr, Campinas, SP - Brazil

• Document type: Journal article
• Source: GENETICS AND MOLECULAR BIOLOGY; v. 34, n. 3, p. 425-428, 2011.
• Web of Science Citations: 6

Abstract

35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (beta(0)IVS-I-1, beta(+)IVS-I-6, and beta(0)39). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the beta(+)IVS-I-6 mutation, 15 (48.4%) the beta(0)IVS-I-1 mutation, 2 (6.5%) the beta(+)IVS-I-110 mutation and 1 (3.2%) the beta(+)IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte. (AU)

• FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
• Grantee: Fernando Ferreira Costa
• Support type: Research Projects - Thematic Grants