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

Revista Brasileira de Hematologia e Hemoterapia

Isaac Lima Da Silva Filho²  Georgina Severo Ribeiro¹  Patrícia Gomes Moura¹  Monica Longo Vechi¹  Andréa Cony Cavalcante¹  Maria José De Andrada-serpa² 

[1] ,Fundação Oswaldo Cruz Instituto de Pesquisa Clínica Evandro Chagas Rio de Janeiro RJ ,Brazil

关键词: Anemia;    sickle cell;    Alpha-thalassemia;    Haplotypes;    Neonatal screening;    Clinical evolution;    Anemia falciforme;    Talassemia alfa;    Haplótipos;    Triagem neonatal;    Evolução clínica;   

DOI  :  10.5581/1516-8484.20120049

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License