Please use this identifier to cite or link to this item:
https://www.arca.fiocruz.br/handle/icict/14115
PREVALENCE AND MOLECULAR CHARACTERIZATION OF β-THALASSEMIA IN THE STATE OF BAHIA, BRAZIL: FIRST IDENTIFICATION OF MUTATION HBB: C.135DELC IN BRAZIL
Affilliation
Universidade de Brasilia. UnB. Departamento de Pediatric. Brasilia, DF, Brasil
Faculdade de Farmacia, Universidade Federal do Amazonas. Manaus, AM, Brasil
Universidade Federal da Bahia. Faculdade de Farmacia. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil
Faculdade de Farmacia, Universidade Federal do Amazonas. Manaus, AM, Brasil
Universidade Federal da Bahia. Faculdade de Farmacia. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Laboratório de Patologia e Biologia Molecular. Salvador, BA, Brasil
Abstract
β-Thalassemia (β-thal) is a hereditary disease with at least 200 known causative molecular defects,
with a limited number of distinct mutations predominating in any given population. The Brazilian
population is one of the most heterogeneous in the world. Although occurrences of β-thal in this country
have been recognized for a long time and previous studies have shown important regional differences
related to the mutational profile, no extensive analysis of mutations of the HBB gene has been carried
out in Brazil. We examined 1011 teenagers from Bahia, a state located in the northeast of Brazil.
Hematological data were obtained using automated cell counting, hemoglobin (Hb) profiles were
studied by high performance liquid chromatography (HPLC), and DNA was analyzed by automated
sequencing. None of the four Mediterranean mutations that are most frequently found in South and
Southeast Brazil (HBB: c.118C>T; HBB: c.93-21G>A; HBB: c.92þ1G>A; HBB: c.92þ6T>C),
was found to be responsible for thalassemia in the cases that we studied. One heterozygote for a
frameshift mutation at codon 44 (–C) was identified. This is the first study to determine the prevalence
and profile of β-thal in Bahia State. For the first time in Brazil, we report the occurrence of the HBB:
c.135delC mutation in the β-globin gene.
Share