title: Glucose-6-Phosphate Dehydrogenase Deficiency in Brazilian Children With Sickle Cell Anemia is not Associated With Clinical Ischemic Stroke or High-Risk Transcranial Doppler.
abstract: BACKGROUND
  Stroke is a severe complication of sickle cell anemia (SCA). The role of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is controversial.
  
  
  METHODS
  The aim of this study was to investigate the association of clinical ischemic stroke, high-risk transcranial Doppler measurements (TCD), and hematological features with molecular variants usually linked to G6PD deficiency or with the biochemical activity of G6PD in a cohort of 395 Brazilian children with SCA. G6PD activity was quantitatively determined using an enzymatic-colorimetric assay. G6PD mutations were determined by PCR-RFLP and sequencing. Clinical and hematological data were retrieved from the children's records.
  
  
  RESULTS
  The prevalence of molecularly defined deficiency (hereafter, molecular deficiency) was 4.3% (95% confidence interval: 2.3-6.3%). The mean G6PD activity was 16.88 U/g hemoglobin (Hb) (standard error of the mean [SEM] 0.28) in the group without G6PD molecular deficiency and 8.43 (SEM 1.01) U/g Hb in the group with G6PD A(-) molecular deficiency. G6PD molecular deficiency was not associated with any hematological features. No effects of G6PD molecular deficiency on clinical ischemic stroke or high-risk TCD were detected. The mean G6PD activity was similar in children who had clinical ischemic stroke and in those without stroke. Similar results were obtained in analyses comparing children who had high-risk TCD and those without high-risk TCD.
  
  
  CONCLUSIONS
  Our study demonstrated that G6PD molecular deficiency was not associated either with clinical ischemic stroke or high-risk TCD. Similarly, we found no associations between G6PD enzyme activity and stroke or high-risk TCD. Small sample size precludes definitive conclusions.
authors: Centro de Tecidos Biológicos de Minas Gerais, Fundação Hemominas, Lagoa Santa, Minas Gerais, Brasil.|Faculdade de Medicina/NUPAD, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brasil.
authors: André Rolim
authors: AR
authors: Belisário
authors: Serviço de Pesquisa, Fundação Hemominas, Belo Horizonte, Minas Gerais, Brasil.
authors: Rahyssa
authors: R
authors: Rodrigues Sales
authors: Serviço de Pesquisa, Fundação Hemominas, Belo Horizonte, Minas Gerais, Brasil.
authors: Nayara
authors: N
authors: Evelin Toledo
authors: Departamento Básico-Área de Saúde, Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, Minas Gerais, Brasil.
authors: Cibele
authors: C
authors: Velloso-Rodrigues
authors: Serviço de Pesquisa, Fundação Hemominas, Belo Horizonte, Minas Gerais, Brasil.
authors: Célia
authors: C
authors: Maria Silva
authors: Faculdade de Medicina/NUPAD, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Minas Gerais, Brasil.
authors: Marcos
authors: M
authors: Borato Viana
mesh_terms: D000755:Anemia, Sickle Cell / Q000150:complications* / Q000201:enzymology; D001938:Brazil / Q000453:epidemiology; D002648:Child; D015331:Cohort Studies; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D012189:Retrospective Studies; D020521:Stroke / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000209:etiology; D017585:Ultrasonography, Doppler, Transcranial
chemical_list: D005954:Glucosephosphate Dehydrogenase
keywords: cerebrovascular disease; glucose-6-phosphate dehydrogenase; sickle cell anemia; stroke; transcranial Doppler ultrasound