title: Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil.
abstract: 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.
authors: Fundação Hematologia e Hemoterapia da Bahia, Salvador, Brasil. isa.lyra@terra.com.br
authors: Isa Menezes
authors: IM
authors: Lyra
authors: Marilda Souza
authors: MS
authors: Gonçalves
authors: Joseffina A Pellegrinei
authors: JA
authors: Braga
authors: Maria de Fátima
authors: Mde F
authors: Gesteira
authors: Maria Helena
authors: MH
authors: Carvalho
authors: Sara Terezinha Olalla
authors: ST
authors: Saad
authors: Maria Stella
authors: MS
authors: Figueiredo
authors: Fernando Ferreira
authors: FF
authors: Costa
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics*; D001938:Brazil / Q000208:ethnology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017085:alpha-Thalassemia / Q000235:genetics