Introduction: Thalassemia is a common blood disorder with autosomal recessive inheritance that occurs due to the absence or deficient production of beta globin chains. Although iron chelator agents are effective in helping to iron load , differences in the pharmacokinetics of these drugs and their side effect profiles are observed. Several studies have documented the role of polymorphisms in the genes responsible for the expression of fetal hemoglobin (HbF) and the side effects of drugs. in this study is to investigate polymorphisms in various genes and their association with drug side effects in patients with major thalassemia.
Methods: In this study, the NCBI database and the Megagene pharmacogenetic software were used to analyze polymorphism information and detect side effects of drugs with the Iranian genetic profile.
Results: This study was conducted to evaluate gene polymorphisms(BCL11A, CYP1A1, CYP2D6, HAMP, HBB, HBS1L-MYB, KLF1, KLF10, SIN3A, VEGFA, UGT1A1,UGT1A3 ) and therapeutic response to iron chelating drugs in thalassemia major patients. three polymorphisms BCL11A rs4671393 51%, HBB rs35424040 13% and HBS1L-MYB rs9399137 24.7% were most associated with drug side effects in thalassemia major patients with Iranian genetic profiles.
Conclusion: To use drugs to treat thalassemia, it is necessary first to perform genetic tests on patients to check for the presence of polymorphisms in common genes, including BCL11A, HBB, HBS1L-MYB before prescribing drugs and therapy. If polymorphisms are present, drugs with fewer side effects can be prescribed to the patient.
Keywords: Major β-thalassemia, Iron overload, Pharmacogenetics, SNP, Iron chelating drugs