The term "thalassemia" refers to a group of hereditary disorders characterized by a deficiency or impaired synthesis of certain globin chains that constitute hemoglobin. The most commonly affected chains are the alpha and beta chains, with beta thalassemia being the most prevalent form.The phenotypic expression of beta thalassemia is highly variable, ranging from almost asymptomatic conditions, such as thalassemia minor or thalassemia trait, to intermediate forms of the disease (thalassemia intermedia), and to the most severe form, thalassemia major.

Beta-thalassemia major, also known as Cooley's anemia, is a severe hereditary chronic hemolytic anemia. It typically manifests early in life, usually between 6 months and 2 years of age. Early treatment is essential and may include a bone marrow transplant from a compatible donor or periodic blood transfusions (every 15-20 days), combined with supportive therapies such as chelation therapy. Beta-thalassemia major is relatively rare, with an annual incidence of approximately 1 in 100,000 individuals worldwide.

Unpaired globin chains are unstable, causing hemoglobin to precipitate in red blood cells. This leads to the generation of precursor red blood cells that cannot effectively oxygenate tissues, resulting in their premature destruction in either the bone marrow or the spleen. Ineffective hematopoiesis stimulates an increase in erythropoietin production by the kidneys, which promotes continuous synthesis of new precursors and extramedullary erythropoiesis.

Clinically, patients typically present with early signs of pallor, jaundice, hepatosplenomegaly, and growth failure. Extensive hemolysis can also lead to pulmonary hypertension and hypercoagulability due to reactive oxygen species (ROS) produced by hemoglobin catabolism. Continuous blood transfusions may exacerbate multi-organ involvement, leading to iron overload, which can damage several organs, particularly the liver (resulting in cirrhosis), heart, musculoskeletal system (causing myopathies and arthrosis), and endocrine glands (leading to hypogonadism, hypothyroidism, hypoparathyroidism, and diabetes).

Although diagnosis and treatment primarily fall under medical genetics, imaging plays a crucial role in assessing the multiorgan effects of severe chronic anemia and transfusion-related iron overload. This article will examine key imaging findings encountered in clinical practice.