Incidência das hemoglobinopatias diagnosticadas pelo teste do pezinho em um laboratório privado de João Pessoa-PB no período de janeiro a junho de 2017

Abstract

The newborn screening, also known as Guthrie test, is an examination of newborns for the diagnosis of hereditary, metabolic and congenital diseases that can cause sequels and even death if not treated early. Among the diseases detected in this test are hemoglobinopathies, the most common inherited genetic disorders worldwide, caused by mutations in the genes encoding the alpha and beta chains of hemoglobin. The most frequent are sickle cell disease and thalassemias. The objective of this study was to evaluate the incidence of hemoglobinopathies in the results of newborn screening performed in a large private laboratory in João Pessoa-PB in newborns from January to June 2017. A cross-sectional and descriptive analysis of 334 test results of the Guthrie tests was performed, in which 15 newborns presented alterations. Among them, 2 (0.6%) had Hb FAS, 2 (0.6%) had Hb FAC and none of them had sickle cell anemia or any thalassemia. Besides the hemoglobinopathies, other diseases were founded in the results: 1 (0.3%) case of cystic fibrosis, 2 (0.6%) children with aminoacidopathies, 1 (0.3%) with G6PD deficiency, 1 (0.3%) case of congenital hypothyroidism (CH) and 6 (1.8%) with suspected CH. This study allowed to demonstrate that the Guthrie test has importance in the detection of diseases still in the asymptomatic phase for the reduction of the injuries and the mortality.