title: Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters.
abstract: BACKGROUND
  Sickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.
  
  
  OBJECTIVE
  The aim of this work is to determine the association between hematological and biochemical parameters and genetic variants from eNOS gene, in pediatric SCA patients.
  
  
  METHODS
  26 pediatric SCA patients were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques in three important eNOS gene polymorphisms - rs2070744, rs1799983 and intron 4 VNTR.
  
  
  RESULTS
  Results from this study show a significant statistical association between some parameters and genetic variants: an increased reticulocyte count and high serum lactate dehydrogenase levels were associated with both the rs2070744_TT and the rs1799983_GG genotypes at eNOS gene and high levels of neutrophils were associated with the eNOS4a allele at intron 4 VNTR.
  
  
  CONCLUSIONS
  Our results reinforce the importance of NO bioactivity in SCA. We presume that NO, and its precursors might be used as therapy to improve the quality of life of SCA patients.
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.|Instituto de Investigação Científica Bento da Rocha Cabral, Lisbon, Portugal.
authors: Laura
authors: L
authors: Aguiar
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.|Instituto de Investigação Científica Bento da Rocha Cabral, Lisbon, Portugal.
authors: Andreia
authors: A
authors: Matos
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.|Instituto de Investigação Científica Bento da Rocha Cabral, Lisbon, Portugal.
authors: Ângela
authors: Â
authors: Gil
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
authors: Conceição
authors: C
authors: Afonso
authors: Serviço de Genética Médica, Hospital de Dona Estefânia, Lisbon, Portugal.
authors: Salomé
authors: S
authors: Almeida
authors: Unidade de Hematologia, Hospital de Dona Estefânia, Lisbon, Portugal.
authors: Lígia
authors: L
authors: Braga
authors: Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
authors: João
authors: J
authors: Lavinha
authors: Unidade de Hematologia, Hospital de Dona Estefânia, Lisbon, Portugal.
authors: Paula
authors: P
authors: Kjollerstrom
authors: Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
authors: Paula
authors: P
authors: Faustino
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.|Instituto de Investigação Científica Bento da Rocha Cabral, Lisbon, Portugal.
authors: Manuel
authors: M
authors: Bicho
authors: Laboratório de Genética, Instituto de Saúde Ambiental, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.|Instituto de Investigação Científica Bento da Rocha Cabral, Lisbon, Portugal.
authors: Ângela
authors: Â
authors: Inácio
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009569:Nitric Oxide / Q000378:metabolism*; D011110:Polymorphism, Genetic; D011788:Quality of Life; D055815:Young Adult
chemical_list: D009569:Nitric Oxide
keywords: Sickle cell anemia; genetic modifiers; nitric oxide