β-Thalassemia and renal complications. A narrative review of pathophysiologic mechanisms

Abstract

β-thalassemia are a group of recessively autosomal inherited disorders of haemoglobin synthesis where in mutations of the β-globin gene lead to various degrees of defective β-chain production, an imbalance in α/β-globin chain synthesis, ineffective erythropoiesis, and anaemia. Improved survival in thalassaemic patients has led to the emergence of previously unrecognized complications, such as renal disease. Renal disease is considered the 4 th cause of morbidity among patients with transfusion dependent thalassemia. Chronic anaemia, hypoxia and iron overload are the main mechanisms implicated in development of renal injury, whereas several studies suggested also a contributive role of iron chelators. Kidney disease may develop through progressing renal tubular and glomerular damage; thus, its early recognition and prevention is important in order to prevent and/or reverse deterioration. This review will provide an insight on the involved mechanisms implicated in kidney disease in thalassaemic patients and will discuss the updates on diagnosis and prevention of renal complications in thalassemia.