THE IMPORTANCE OF IRP AS REGULATORS OF IRON METABOLISM IN β THALASSEMIA PATIENTS

Abstract

Thalassemia is a hereditary blood disease. Beta (s)-thalassemia which caused by a point mutation on s-globin gene localized on short arm of chromosome 11 as a cluster, is an autosomal recessive and also one of the most common genetic diseases in worldwide. In other words, this disease is characterized by malfunctions during the globin chain synthesis of hemoglobin synthesis process. Unbalanced globin chain synthesis is the major cause of low level hemoglobin production leading to anemia. Current theraphy for this disease includes regular blood transfusions and iron chelation. Excessive hemolysis, increased intestinal iron absorption as well as frequent blood transfusions during theraphy results in chronically increased iron load and consequently oxidative stress. Iron homeostasis is provided by iron regulatory proteins (IRPs) in body. Therefore, variants of these proteins lead to differences in iron uptake and the storage. In this study, the role of IRP-1 and IRP-2 in iron uptake and the effect of oxidative stress consequent upon the iron toxicity in thalassemia individuals will be examined in detail. Keywords: IRP-1, IRP-2, gene polymorphism, oxidative stress and thalassemia.