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

ABSTRACT: 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 amplificat

SUBMITTER: Abdulmalek Jaafar J 

PROVIDER: S-EPMC8934061 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature