Navegando por Palavras-chave "Alpha-Thalassemia"

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    Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil
    (Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz, 2005-08-01) Lyra, Isa Menezes; 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; Fundação Hematologia e Hemoterapia da Bahia; Universidade Federal da Bahia; Fundação Oswaldo Cruz Centro de Pesquisa Gonçalo Moniz; Universidade Federal da Bahia Faculdade de Farmácia; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP)
    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.