Investigation of the effect of SNPS causing gamma globin expression changes on hemoglobinopathy clinic in Çukurova region

β-thalassemias are genetic diseases characterized by mutations or deletions in genes encoding β-globin chains, while sickle cell anemia is characterized by the production of sickle-shaped hemoglobin called HbS, as a result of substitution of a single amino acid (β 6Glu→Val) at the 6th position of the β-globin chain. In recent years, single gene polymorphisms (SNPs) have been used with increasing interest in determining the genetic variation in the response of individuals to drugs in complex diseases, developing individual treatment options according to the patient's genotype, and identifying new therapeutic targets. Fetal Hemoglobin (HbF) level rises in varying amounts in hemoglobinopathies such as β-thalassemia and sickle cell anemia (HbS). The persistence of HbF at varying levels in adulthood is controlled by genetic factors. Among these factors are QTLs (Quantitative Trait Loci) containing Xmn1 (C→T) SNP in the HBG2 locus and BCL11A on chromosome 2 and HMIP SNPs on chromosome 6. In our study, Xmn1, BCL11A and HMIP) SNPs, which improved the phenotype by increasing HbF synthesis in a total of 100 patients, 90 with β-thalassemia and 10 with sickle cell anemia, who applied to the Department of Pediatric Hematology, were tetra-primer ARMS-PCR and RT PCR evaluated using methods. In the Xmn1 polymorphism, the patients had 74% "C/C" and 26% "C/T" alleles, 54 "C/C", 30 "C/T" and 16 "T/T" alleles in the BCL11A polymorphism. In the polymorphism and HMIP, 100% of the patients were found to carry the "T/T" allele. Allele frequencies of three SNPs screened in patients were examined and Xmn1 "C", BCL11A "C" and HMIP "T" alleles were determined as major alleles. When the Xmn1, BCL11A and HMIP polymorphisms were examined together, it was determined that HbF synthesis was high (p<0,01) in individuals carrying the Xmn1 "C/T", BCL11A "T/T" and HMIP "T/T" alleles together.