Triagem neonatal para hemoglobinopatias: experiência de um ano na rede de saúde pública do Rio Grande do Sul, Brasil

• Autor(a) principal: Sommer, Camila K.
• Data de Publicação: 2006
• Outros Autores: Goldbeck, Ana Stela, Wagner, Sandrine C., Castro, Simone M.
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Cadernos de Saúde Pública
• Texto Completo: https://cadernos.ensp.fiocruz.br/ojs/index.php/csp/article/view/2766
• topic: Hemoglobinopatias; Anemia Falciforme; Triagem Neonatal

Hemoglobinopathies are the most common inherited disorders in humans; the most frequent are hemoglobins S and C (Hb S and Hb C). Studies in Brazil show the high prevalence of Hb S and Hb C heterozygotes, indicating the need for diagnosis to allow medical care and suitable genetic counseling. This study evaluates the prevalence of hemoglobin patterns in different areas of Rio Grande do Sul State, Brazil, using neonatal data from the public health system. Blood samples from 117,320 newborns, obtained by heel stick, and 2,389 blood samples from parents of newborns, obtained by venopuncture, were submitted to IEF and HPLC. Among the newborns, 1,629 (1.4%) showed abnormal hemoglobin patterns: 1,342 FAS; 225 FAC; 45 FAD; 2 FSC; 1 FS and 26 variant hemoglobin heterozygotes. We conclude that the methods used are able to identify a broad variety of hemoglobin patterns with high specificity and sensitivity. The information is of paramount importance for transmitting knowledge in the public health field, besides facilitating planning and resource allocation.