Characterization of Beta-thalassemia Mutations in Patients from the State of Rio Grande Do Norte, Brazil

Overview

Journal Genet Mol Biol

Specialty Genetics

Date 2011 Sep 21

PMID 21931514

Citations 4

Authors

Zama Messala Luna da Silveira

Maria das Vitorias Barbosa

Thales Allyrio Araujo de Medeiros Fernandes

Elza Miyuki Kimura

Fernando Ferreira Costa

Maria de Fatima Sonati

Ivanise Marina Moretti Rebecchi

Tereza Maria Dantas de Medeiros

Affiliations

Soon will be listed here.

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 (β(0)IVS-I-1, β(+)IVS-I-6, and β(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 β(+)IVS-I-6 mutation, 15 (48.4%) the β(0)IVS-I-1 mutation, 2 (6.5%) the β(+)IVS-I-110 mutation and 1 (3.2%) the β(+)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.

Citing Articles

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