Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil

• Autor(a) principal: Lyra, Isa Menezes
• Data de Publicação: 2005
• Outros Autores: Gonçalves, Marilda Souza, Braga, Josefina Aparecida Pellegrini [UNIFESP], Gesteira, Maria de Fátima, Carvalho, Maria Helena, Saad, Sara Teresinha Olalla, Figueiredo, Maria Stella [UNIFESP], Costa, Fernando Ferreira
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0102-311X2005000400032; http://repositorio.unifesp.br/handle/11600/2626
• topic: Sickle Cell Anemia; Alpha-Thalassemia; Haplotypes; Pediatrics; Anemia Falciforme; Talassemia Alfa; Haplotipos; Pediatria

This study focused on clinical, hematological, and molecular aspects of sickle cell anemia pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and Salvador, aged 3 to 18 years, were evaluated. Hematological analyses, betaS globin gene haplotypes, and alpha2 3.7kb-thalassemia were performed. Numbers of hospitalizations due to vaso-occlusive crises, infections, stroke, and cholelithiasis were investigated. São Paulo had more hospitalizations from vaso-occlusion, cholelithiasis, and stroke than Salvador. The Ben/CAR genotype predominated in both cities. alpha2 3.7kb-thalassemia had a frequency of 28.2% in Salvador, mostly with Ben/CAR genotype (45.0%), while São Paulo had 22.5% with similar frequencies of the Ben/ CAR and CAR/CAR genotypes. Sickle cell anemia patients from São Paulo also had more episodes of stroke, which was observed among CAR/CAR, atypical, and BEN/CAR haplotypes. In Salvador stroke was only observed in the Ben/CAR genotype. Cholelithiasis had similar frequencies in the two cities. These data suggest a milder phenotype among patients in Salvador, possibly due to genetic, environmental, and socioeconomic factors. Further studies are needed to elucidate modulating factors and phenotype association.