Beta-Thalassemia Major with Secondary Hemochromatosis and Concomitant Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse clinical manifestations and multiorgan involvement. Beta-thalassemia (β-thalassemia) major is a hereditary hemoglobinopathy characterized by the absence of beta-globin chain synthesis, ineffective erythropoiesis, and lifelong transfusion dependence with secondary hemochromatosis. The coexistence of SLE with β-thalassemia major is rare, presenting a diagnostic and therapeutic challenge. We report the case of a 20-year-old female with known transfusion-dependent β-thalassemia major since infancy, who presented with worsening symptomatic anemia, inflammatory polyarthritis, and mucocutaneous manifestations. She had received numerous regular blood transfusions without iron chelation therapy. Based on the 2019 American College of Rheumatology/European League Against Rheumatism classification criteria, the patient was diagnosed with SLE; furthermore, a diagnosis of secondary hemochromatosis was established based on radiological evidence of hepatic iron deposition and laboratory values consistent with iron overload. The treatment included multiple disease-targeted therapies and supportive multidisciplinary care. Clinicians should maintain a high index of suspicion for autoimmune diseases in patients with thalassemia who develop atypical nonspecific manifestations. An unexplained increase in the frequency of required blood transfusions should prompt evaluation for a concomitant systemic disorder. This case underscores the diagnostic complexity and potential immunologic interplay between β-thalassemia, chronic iron overload, and autoimmunity, highlighting the importance of early recognition and a multidisciplinary approach to optimize patient outcomes.