Prevalence of hemoglobin variants in quilombola communities in the state of Piaui, Brazil/Prevalencia de hemoglobinas variantes em comunidades quilombolas no estado do Piaui, Brasil

• Published in: Ciência & saude coletiva Vol. 22; no. 11; p. 3773
• Main Authors: Soares, Leonardo Ferreira, Lima, Eleonidas Moura, da Silva, Jose Alexsandro, Fernandes, Suenia Soares, Silva, Keyla Malba da Costa, Lins, Sarah Pereira, Damasceno, Bolivar Ponciano Goulart de Lima, Verde, Roseane Mara Cardoso Lima, Goncalves, Marilda de Souza
• Format: Journal Article
• Language: Portuguese
• Published: Associacao Brasileira de Pos-Graduacao em Saude Coletiva - ABRASCO 01-11-2017
• Subjects: Brasil
• ISSN: 1413-8123
• DOI: 10.1590/1413-812320172211.04392016

Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui. Key words Sickle cell disease, Sickle cell trait, Health of the Afro-descendant population As hemoglobinas variantes (Hb) decorrem de mutacoes nos genes da globina. As variantes estruturais mais frequentes sao HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequencia elevada na America, enquanto que no Brasil e maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presenca de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piaui. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia liquida de alta eficiencia (HPLC). Aplicou-se questionario referente a genero, etnia e consanguinidade das populacoes. Das 1.239 amostras, 5,4% apresentaram o traco falciforme AS, as doencas falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteracao das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presenca de 13 casamentos consanguineos dentre as 84 alteracoes das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piaui contribui para sua educacao em saude frente aos aspectos da heranca genetica destas proteinas, relevante questao de saude publica, proporcionando subsidios para a implantacao do Programa Estadual da Doenca Falciforme do Piaui. Palavras-chave Doenca falciforme, Traco falciforme, Saude da populacao negra