Thalassemia and iron overload cardiomyopathy: Pathophysiological insights, clinical implications, and management strategies

Abstract

Thalassemia is a hereditary blood disorder characterized by reduced hemoglobin production, leading to chronic anemia. A major complication of thalassemia is iron overload, primarily due to regular blood transfusions and increased gastrointestinal iron absorption, which can lead to iron overload cardiomyopathy, a significant cause of morbidity and mortality in thalassemia patients. This review aims to provide an in-depth analysis of the pathophysiological mechanisms underlying iron overload cardiomyopathy in thalassemia, examining how excessive iron accumulation disrupts cardiac function through oxidative stress, cellular damage, and altered calcium homeostasis. Clinical manifestations, including fatigue, arrhythmias, and heart failure, are discussed alongside diagnostic strategies such as echocardiography and cardiac MRI for early detection and monitoring. Management approaches focusing on iron chelation therapy, lifestyle modifications, and advanced interventions like gene therapy are explored. The review also highlights the importance of early diagnosis, regular monitoring, and patient adherence to therapy to prevent the progression of cardiomyopathy. Recent advances in treatment and future research directions, including personalized medicine, and gene editing technologies, are presented. Addressing the challenges in managing iron overload in thalassemia patients is crucial for improving outcomes and enhancing quality of life.