Triagem neonatal para hemoglobinopatias: resultados em cinco anos de uma coorte a partir do diagnóstico pelo teste do pezinho em Sergipe

Abstract

OBJECTIVE: To evaluate clinical presentation, symptoms and morbidity profile of individuals diagnosed early for sickle cell disease by newborn screening. METHODS: A cohort study of newborns in Sergipe State in October 2011 to October 2016 that showed that newborn screening for hemoglobinopathies changed. The laboratory called on leaders to attend the Clinic of Hematology University Hospital Pediatric the Federal University of Sergipe. The cases of homozygous or heterozygous double - forms were sent for confirmatory tests, hemoglobin electrophoresis, and for the tracking service. RESULTS: Were studied 81 children with sickle cell disease by neonatal screening program. The children's ages ranged from 1 to 70 months, with an average of 32,87 months (SD ± 16.66); 69.14% patients had hemoglobin SS. The clinical variables, it was observed that 93,83% of the sample were taking of folic acid, 90,12% were taking of prophylactic penicillin and 3,7% were taking of hydroxyurea. Three deaths were recorded, all caused by splenic sequestration crisis. The most common event was airway infection with 71.6% of cases. Typical complications of sickle cell disease such as painful episode, hand foot syndrome and hemolytic crisis, accounted for 37.03%, 27.1% and 8.64% of cases, respectively. CONCLUSION: Patients were identified with common symptoms and early onset. Clarification of caregivers prior to the appearance of the first symptoms, besides the use of prophylactic antibiotics, may have contributed to reducing the occurrence of acute complications associated with early mortality.