Relationship between adenosine deaminase polymorphism (c.22G & gt;A) and oxidative stress in sickle cell anemia

Publication date: Available online 13 September 2016 Source:Meta Gene Author(s): Danilo Grünig Humberto da Silva, Edis Belini, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos The aim of this study was to identify, in people with sickle cell anemia (SCA), adenosine deaminase (ADA; c. 22G>A; rs73598374) polymorphism, and correlating it with oxidative stress markers. We evaluated 95 unrelated and diagnosed Brazilian sickle cell anemia (SCA) patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/kg/day). ADA polymorphism was identified by PCR-RFLP. Biochemical parameters were measured using spectrophotometric [catalase, glutathione S-transferase, glutathione peroxidase, glutathione reductase activities] and chromatographic methods [fetal hemoglobin (HbF), glutathione (GSH) and malondialdehyde (MDA) levels]. Among the 95 SCA patients, we identified 80 (84.2%) wild homozygous for ADA (22GG), 15 (15.8%) heterozygous (22GA) and none mutant homozygous (22AA), leading to an allelic frequency of 0.92 for the ancestral allele (22G) and 0.08 for the mutant one (22A). Unexpectedly, we did not observe any influence of ADA polymorphism on oxidative stress markers, as well as interaction ef...
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research