title: Impact of β(S)-globin haplotypes on oxidative stress in patients with sickle cell anemia in steady state.
abstract: OBJECTIVE
  In Brazil, sickle cell anemia (SCA) is one of the most common genetic disorders. The levels of fetal hemoglobin (HbF) may be influenced by the presence of genetic modifiers; among these are the β(S)-globin haplotypes, associated with the clinical heterogeneity presented by the disease. Patients with SCA have an imbalance between the production of reactive oxygen species and antioxidant capacity, generating oxidative stress. Nitric oxide (NO) is a potent vasodilator and may be involved in the mechanism of HbF induction. The aim of this study was to evaluate the impact of β(S)-globin haplotypes in oxidative stress in patients with SCA.
  
  
  METHODS
  The study included 47 patients with SCA in steady state. The molecular diagnosis of SCA and characterization of the β(S)-globin haplotype was performed by β(S) chain polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). Concentration of HbF was determined by high-performance liquid chromatography (HPLC). Serum levels of nitrite/nitrate (NOx) and malondialdehyde were determined by spectrophotometry.
  
  
  RESULTS
  The most prevalent haplotype in the study population was Bantu. The Benin/n group presented significantly higher HbF and nitrite levels as compared to the Bantu/n group.
  
  
  CONCLUSIONS
  Our results confirm data reported in the literature where the Benin and Bantu haplotypes are respectively correlated to high levels and decreased HbF. In addition, haplotypes associated with high levels of HbF showed high levels of nitrite, demonstrating that as the HbF, serum levels of NOx may prove useful as a prognostic biomarker in patients with SCA.
authors.affiliation: Universidade Federal do Ceará, Fortaleza, Brazil.
authors.forename: Bruna Stefânia
authors.initials: BS
authors.lastname: Carvalho-dos Santos
authors.forename: Darcielle Bruna
authors.initials: DB
authors.lastname: Dias-Elias
authors.forename: Lilianne Brito
authors.initials: LB
authors.lastname: da Silva-Rocha
authors.forename: Maritza
authors.initials: M
authors.lastname: Cavalcante-Barbosa
authors.forename: Romélia
authors.initials: R
authors.lastname: Pinheiro-Gonçalves
mesh_terms: D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D001938:Brazil; D003430:Cross-Sectional Studies; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009573:Nitrites / Q000097:blood; D018384:Oxidative Stress / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D055544:beta-Globins / Q000235:genetics*
chemical_list: D009573:Nitrites; D055544:beta-Globins; D005319:Fetal Hemoglobin