%0 Journal Article
%T Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro
%A Silva Filho
%A Isaac Lima da
%A Ribeiro
%A Georgina Severo
%A Moura
%A Patr¨ªcia Gomes
%A Vechi
%A Monica Longo
%A Cavalcante
%A Andr¨¦a Cony
%A Andrada-Serpa
%A Maria Jos¨¦ de
%J Revista Brasileira de Hematologia e Hemoterapia
%D 2012
%I Sociedade Brasileira de Hematologia e Hemoterapia
%R 10.5581/1516-8484.20120049
%X objective: to describe clinical events of sickle cell disease and the correlation with ¦Â-globin haplotypes and ¦Á-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 ¡À 8.6) were aged between 0-3 years old and 34 (54.9 ¡À 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-¦Á 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 ¦Â-globin haplotypes. children with sickle cell anemia and ¦Á-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 ¦Á-thalassemia had more clinical events.
%K anemia
%K sickle cell
%K alpha-thalassemia
%K haplotypes
%K neonatal screening
%K clinical evolution.
%U http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1516-84842012000300010&lng=en&nrm=iso&tlng=en