Estudo dos indivíduos heterozigotos para doença falciforme identificados na triagem neonatal em Sergipe

• Ano de defesa: 2016
• Autor(a) principal: Leite, Débora Cristina Fontes
• Orientador(a): Cipolotti, Rosana
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Sergipe
• Programa de Pós-Graduação: Pós-Graduação em Ciências da Saúde
• País: Brasil
• Palavras-chave em Português: Ciências da saúde; Hemoglobinopatias; Traço falciforme; Triagem neonatal; Distribuição espacial da população; Orientação genética
• Palavras-chave em Inglês: Hemoglobinopathies; Sickle cell trait; Newborn screening; Spatial distribution; Genetic counseling
• Área do conhecimento CNPq: CIENCIAS DA SAUDE
• Link de acesso: https://ri.ufs.br/handle/riufs/3626

Hemoglobinopathies are genetic alterations of high population frequency. Neonatal screening identified both homozygous cases (patients) and heterozygotes (sound carriers). This study aims to identify the spatial distribution of the HbS carriers (SCT) in Sergipe from universal newborn screening and evaluate knowledge about hemoglobinopathies in heterozygous families for genetic counseling performed in the delivery of the results of neonatal screening. The sample consisted of all individuals born in Sergipe, from October 2011 to October 2012, that have been submitted to neonatal screening by the National Health System. Tests were carried out in basic health units and forwarded to the University Hospital Lab where they were analyzed. The relatives of patients with SCT were called to attend the meeting where the delivery of the examination was made, and answered the questionnaire on knowledge of sickle cell disease and trait, before and after orientation. Analysis of the spatial distribution of individuals heterozygous for hemoglobinopathies was performed using spatial autocorrelation (Moran index). To evaluate the number of total hits questionnaire before and after we used the Wilcoxon test and each question was performed McNemar test. Among the 32,906 examinations, 1,202 showed abnormalities standard hemoglobin. There was a positive correlation with the percentage of blacks and mulattos county and the incidence of SCT and a negative correlation with the percentage of blacks in the cities. In heterozygous distribution analysis of the state of Sergipe conducted by autocorrelation were identifying three regions in the state more frequently to HbS. Of the 1,202 individuals identified with SCT only 290 families attended the genetic counseling. The knowledge of the study population regarding hemoglobinopathies are limited. Even though the need for neonatal screening, the majority of respondents is unaware of what the diseases surveyed by examination. However, they managed to assimilate information with the strategy used.