| Title: |
Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro |
| Authors: |
Silva Filho, Isaac Lima da, Ribeiro, Georgina Severo, Moura, Patrícia Gomes, Vechi, Monica Longo, Cavalcante, Andréa Cony, Andrada-Serpa, Maria José de |
| Source: |
Revista Brasileira de Hematologia e Hemoterapia. January 2012 34(3) |
| Publisher Information: |
Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular, 2012. |
| Publication Year: |
2012 |
| Subject Terms: |
Anemia, sickle cell, Alpha-thalassemia, Haplotypes, Neonatal screening, Clinical evolution |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
text/html |
| Language: |
English |
| ISSN: |
1516-8484 |
| DOI: |
10.5581/1516-8484.20120049 |
| Access URL: |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000300010 |
| Rights: |
info:eu-repo/semantics/openAccess |
| Accession Number: |
edssci.S1516.84842012000300010 |
| Database: |
SciELO |
