Musculoskeletal imaging manifestations of beta-thalassemia

Beta-thalassemia is a heterogeneous group of anemic disorders caused by the absence or defective production of beta-globin chains. Their clinical manifestations vary from asymptomatic to severe symptoms leading to a transfusion-dependent anemic state. The genes that cause thalassemia are prevalent in Asian and African populations, particularly concentrated in the Middle East, Mediterranean region, parts of India, and South East Asia. Over time, the disease causes various musculoskeletal abnormalities with complex pathophysiology secondary to chronic anemia. The compensatory mechanisms result in diffuse marrow hyperplasia, yellow to red marrow reconversion, osteopenia, and pathologic fractures. Inability to remove excess iron and inevitable iron overload as a result of multiple blood transfusions in patients with thalassemia major and intermedia is another face of the disease. Musculoskeletal manifestations include osteopenia, coarse trabeculae, bone expansion, synovitis, joint effusion, and metaphyseal dysplasia. These complications have long-lasting effects on the skeletal growth pattern resulting in bone deformity, short stature, premature closure of physes, and predisposition to infection. Additionally, there are radiologic features of iron-chelator therapy, which are unique and unrelated to the disease process itself. Familiarity of radiologists with the imaging features of beta-thalassemia is crucial in both diagnosis and timely management of the disease and its complications.