Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/235977
Type: Artigo de periódico
Title: Investigating Alpha-globin Structural Variants: A Retrospective Review Of 135,000 Brazilian Individuals.
Author: Kimura, Elza Miyuki
Oliveira, Denise Madureira
Jorge, Susan Elisabeth
Ribeiro, Daniela Maria
Zaccariotto, Tânia Regina
Santos, Magnun Nueldo Nunes
Almeida, Vanessa
Albuquerque, Dulcinéia Martins
Costa, Fernando Ferreira
Sonati, Maria de Fátima
Abstract: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a representative sample of the Southeastern Brazilian population. A total of 135,000 individuals, including patients with clinical suspicion of hemoglobinopathies and their family members, randomly chosen individuals submitted to blood tests and blood donors who were abnormal hemoglobin carriers were analyzed. The variants were screened by alkaline and acid electrophoreses, isoelectric focusing and cation-exchange high performance liquid chromatography (HPLC) and the abnormal chains were investigated by reverse-phase high performance liquid chromatography (RP-HPLC). Mutations were identified by molecular analyses, and the oxygen affinity, heme-heme cooperativity and Bohr effect of the variants were evaluated by functional tests. Four new and 22 rare variants were detected in 98 families. Some of these variants were found in co-inheritance with other hemoglobinopathies. Of the rare hemoglobins, Hasharon, Stanleyville II and J-Rovigo were the most common, the first two being S-like and associated with alpha-thalassemia. The variability of alpha-globin alterations reflects the high degree of racial miscegenation and an intense internal migratory flow between different Brazilian regions. This diversity highlights the importance of programs for diagnosing hemoglobinopathies and preventing combinations that may lead to important clinical manifestations in multiethnic populations.
Subject: Alpha-globin Genes
Alpha-globin Variants
Alpha-thalassemia
Hemoglobinopathies
Multiethnic Populations
Rights: fechado
Identifier DOI: 10.1016/j.bjhh.2015.01.005
Address: http://www.ncbi.nlm.nih.gov/pubmed/25818820
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

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