title: Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia.
abstract: The aim of this study was to investigate the association between three polymorphisms involved in the oxidative stress pathway and fetal hemoglobin (Hb F) levels in patients with sickle cell anemia in a Brazilian population. One hundred and seven patients with sickle cell anemia were recruited for genomic DNA extraction. The levels of Hb F, sex and age were evaluated. Three polymorphisms, rs4673:T>C and rs9932581:G>A in the CYBA gene and rs2071746:A>T in the HMOX1 gene, were identified through direct sequencing. Hb F levels were not associated with sex, age, or the polymorphisms rs4673:T>C and rs9932581:G>A. However, the TT genotype of the rs2071746:A>T polymorphism was associated with increased levels of Hb F (p value = 0.0131). We observed an association between the TT genotype of the rs2071746:A>T polymorphism, present in the HMOX1 gene, and increased levels of Hb F, indicating the presence of a new marker related to Hb F levels in sickle cell anemia patients.
authors.affiliation: Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering CBMEG, University of Campinas UNICAMP, Campinas, São Paulo, Brazil.
authors.forename: Gislene P
authors.initials: GP
authors.lastname: Gil
authors.forename: Galina
authors.initials: G
authors.lastname: Ananina
authors.forename: Mariana B
authors.initials: MB
authors.lastname: Oliveira
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.forename: Márcio J
authors.initials: MJ
authors.lastname: Silva
authors.forename: Magnun N N
authors.initials: MN
authors.lastname: Santos
authors.forename: Marcos A C
authors.initials: MA
authors.lastname: Bezerra
authors.forename: Betânia L D
authors.initials: BL
authors.lastname: Hatzlhofer
authors.forename: Aderson S
authors.initials: AS
authors.lastname: Araujo
authors.forename: Mônica B
authors.initials: MB
authors.lastname: Melo
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000378:metabolism*; D001938:Brazil; D002648:Child; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005787:Gene Frequency; D005838:Genotype; D051547:Heme Oxygenase-1 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D055815:Young Adult
chemical_list: D005319:Fetal Hemoglobin; C496541:HMOX1 protein, human; D051547:Heme Oxygenase-1