Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major β- Thalassemia

Thalassemia is an inherited blood disorder in which the body produces defective hemoglobin. One of the important processes to reduce the complication of major β-thalassemia is blood transfusion that leads to elevated ferritin levels in the blood. Many patients who have major β-thalassemia may have hemochromatosis conditions resulting from iron metabolism disorders. In patients who have β-thalassemia, the mutation Y250X in the TFR2 gene may play a role in the incidence of hemochromatosis. This study aimed to determine the relationship between ferritin levels and Y250X mutation in major β-thalassemia patients. In the present study, 12 blood samples were divided into nine major β-thalassemia patients and three healthy controls. The DNA was isolated from blood samples and the amplification of the target region was performed based on the specific primers. Sanger sequencing was used to find genetic single nucleotide polymorphisms associated with iron overload. Blood parameters, such as hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin, and serum ferritin levels were analyzed and the recorded data showed the following results: 8.1±0.8 g/dL, 84.6±5.5 fL, 27±0.7 pg, respectively. The recorded data showed that the mean serum ferritin level in major β-thalassemia patients was 1921.7±848 ng/mL. The Y250X mutation was not found in major β-thalassemia patients and healthy controls.