Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro

objective: to describe clinical events of sickle cell disease and the correlation with β-globin haplotypes and α-thalassemia in under 6-year-old children. methods: a retrospective study was conducted of under 6-year-old children from the neonatal screening program in rio de janeiro. forty-eight male and 48 female children were enrolled in this study, 79 with sickle cell anemia and 17 with hemoglobin sc. the mean age was 29.9 (standard deviation = 20.9) months, 62 (16.2 ± 8.6) were aged between 0-3 years old and 34 (54.9 ± 11.3) were from 3-6 years old. painful events, acute splenic sequestration, hemolytic crises, hand-foot and acute chest syndromes and infections were evaluated. results: the events were more frequent in under 3-year-old children, 94% of children had at least one episode. infection was the most common event affecting 88.5% of children. acute splenic sequestration took place earlier, while painful crises and acute chest syndromes in under 6-year-old children. thal-α 3.7 was observed in 20.9% of cases. bantu was the most frequent haplotype found, followed by benin. no correlation was observed between clinical events and β-globin haplotypes. children with sickle cell anemia and α-thalassemia have less infectious events. no correlation was found among these polymorphisms and clinical events, however, the majority of children with bantu/bantu and without α-thalassemia had more clinical events.