Thalassemia and autoimmune diseases: Absence of evidence or evidence of absence?

Abstract The thalassemias are a group of inherited disorders of hemoglobin synthesis that continue to pause a global public health concern. The complex molecular and pathogenetic pathways involved in disease process lead to an array of comorbidities that require lifelong management. The disease and its treatment can also lead to alterations in immune function and a link to various autoimmune diseases has been frequently suggested. However, most data stem from single case reports and small studies that do not allow proper assessment of causal associations. Still, the high morbidity in thalassemia makes patients vulnerable to the added burden of coexisting autoimmune diseases, and special management considerations in this patient population are warranted. In this review, we explore insights and data from the literature on various autoimmune disease that have been observed in patients with thalassemia. The role of the thalassemia carrier state in modifying outcomes of patients with autoimmune diseases is also discussed.