Triagem neonatal para hemoglobinopatias: resultados em três 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 2014 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 56 children with sickle cell disease by neonatal screening program. The children's ages ranged from 2 to 36 months, with an average of 18 months (SD ± 9.6); 60.7 % patients had hemoglobin SS. The clinical variables, it was observed that 96.15 % of the sample made use of folic acid and 88.46 % made use of prophylactic penicillin. Two deaths were recorded, both caused by splenic sequestration crisis. The most common event was airway infection with 28.57 % of cases. Typical complications of sickle cell disease such as hemolytic crisis, painful episode and hand foot syndrome, accounted for 8.93 %, 7.14 % and 3.57 % 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.