Investigation of the relationship between gene polymorphisms and the complications of the disease in sickle cell anemia patients

Aim: Sickle cell anemia is an autosomal recessive inherited hemoglobinopathy that causes progressive organ damage. Determining the role of genes in sickle cell anemia patients may contribute significantly to the follow-up and treatment of the disease. The aim of this study is to investigate the relationship between gene polymorphisms and complications of the disease in patients with sickle cell anemia. Material and methods: A total of 189 individuals, including 89 SCA patients with HbSS genotype and 100 healthy controls, were included in our study. For genotyping of eNOS T-786C, VEGF rs2010963, ANXA2 rs1033028 gene polymorphisms, peripheral blood samples were taken into EDTA tubes from all patients and the control group, and genomic DNA was isolated from these samples. Real-time PCR was performed using primers from the obtained genomic DNAs. Genotyping was done with PCR data. All results were evaluated with appropriate statistical methods. Information about the complications of the patients was obtained by using their files. Results: For the eNOS rs2070744 polymorphism, 44,9% of the patient group was mutant, 38,2% heterozygous, 16,9% wild type genotype; 43% of the control group had mutant, 41% heterozygous and 16% wild type genotype. There was no statistical difference between the two groups in terms of genotype frequencies of eNOS rs2070744 polymorphism (p=0,926). For VEGF rs2010963 polymorphism, 42,7% of the patient group was heterozygous, 32,6% mutant, 24,7% wild type genotype; 51% of the control group had heterozygous, 35% mutant and 14% wild type genotype. There was no statistical difference between the two groups in terms of VEGF rs2010963 polymorphism genotype frequencies (p=0,164). For the ANXA2 rs1033028 polymorphism, 49,4% of the patient group were heterozygous, 29,2% mutant, 21,3% wild type genotype; 45% of the control group were mutant, 41% heterozygous, and 14% had wild type genotype. Although genotype frequencies of ANXA2 rs1033028 polymorphism were different between the two groups, this difference was not statistically significant (p=0,07). There was no statistical relationship between eNOS rs2070744, VEGF rs2010963, ANXA2 rs1033028 polymorphisms and complications of sickle cell anemia. Conclusion: No relationship was found between the development of complications and gene polymorphisms in sickle cell anemia. Further studies are needed to understand the role of eNOS, VEGF and ANXA2 gene polymorphisms in the development of complications in sickle cell anemia. Key words: Sickle cell anemia, gene, polymorphism, eNOS, VEGF, ANXA2