The rs4808793 polymorphism of GDF-15 associates with significantly elevated ferritin in both thalassemia major and thalassemia intermedia

Background: Previous studies have proposed the rs4808793 polymorphism of the GDF-15 as a potent inducer of hypertension, cardiovascular disease, and renal failure. The current study was performed to investigate the role of rs4808793 polymorphism in the pathogenesis of iron overload in patients suffering from major or intermedia β-thalassemia. Materials and Methods: The study included 69 major thalassemia patients and 25 intermedia thalassemia patients as the control group. The study was conducted on 69 major thalassemia and 25 intermedia thalassemia patients who referred to Baqa'i Hospital 2 in Ahvaz, Iran. Five milliliter blood was collected and DNA was extracted. After DNA amplification by the use of polymerase chain reaction, the rs4808793 polymorphism was detected by AlwNI restriction enzyme application and restriction fragment length polymorphism. Results: Mean serum ferritin in patients with β-thalassemia major (3490.41 ± 169.22 ng/ml) was significantly higher than those with thalassemia intermedia (677.16 ± 388.80) (P < 0.05). The frequency of mutation showed no statistically significant difference between cases and controls (41% vs. 32%) (P > 0.05). Both cases and controls with rs4808793 polymorphism showed significantly elevated serum ferritin concentrations compared to patients without mutations (P < 0.05). Conclusion: Incidence of rs4808793 GDF-15 polymorphism can be considered as an effective factor in iron overload, exposing people to thalassemia, both in thalassemia major and intermediate groups.