Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil.
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.
Lyra
Isa Menezes
IM
Fundação Hematologia e Hemoterapia da Bahia, Salvador, Brasil. isa.lyra@terra.com.br
Gonçalves
Marilda Souza
MS
Braga
Joseffina A Pellegrinei
JA
Gesteira
Maria de Fátima
Mde F
Carvalho
Maria Helena
MH
Saad
Sara Terezinha Olalla
ST
Figueiredo
Maria Stella
MS
Costa
Fernando Ferreira
FF
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