Beta-Thalassemia in Adulthood Previously Suspected as Treatment-Resistant Iron Deficiency Anemia: A Case Report

Beta-thalassemia (β-thalassemia) is a hematologic genetic condition that causes microcytic anemia due to defective synthesis of the hemoglobin beta chain. As a hypochromic microcytic anemia that is commonly associated with symptoms such as fatigue and pallor when identified in adulthood, β-thalassemia may be commonly underdiagnosed or misdiagnosed as iron deficiency anemia. This study presents a case of a patient with β-thalassemia who was initially misdiagnosed with treatment-resistant iron deficiency anemia. Here, we present the case of a 66-year-old male of Mediterranean descent with a history of military service who presented with persistent fatigue. He had a past medical history of hypertension, diabetes mellitus type 2, sleep apnea, and iron deficiency anemia. Despite undergoing unnecessarily prolonged iron supplementation for suspected iron deficiency anemia, the patient's complete blood count and peripheral blood smear continued to identify hypochromic microcytic anemia. Ultimately, hemoglobin electrophoresis was performed, and mutations were identified in the hemoglobin beta chain consistent with β-thalassemia minor. Due to its rarity and wide variation in presentation, β-thalassemia may be frequently misdiagnosed. β-thalassemia is a spectrum of disorders ranging from β-thalassemia minor, which may be asymptomatic and incidentally discovered in adulthood, to β-thalassemia major, which may include bone marrow deformities from extramedullary hematopoiesis and require frequent blood transfusions to sustain life. Therefore, patients who present with symptoms of β-thalassemia minor may not be identified until later in life after undergoing decades of ineffective treatment. β-thalassemia is a multifactorial disease with a variety of clinical presentations that can easily be misdiagnosed as other types of anemia. This case highlights the importance of performing thorough laboratory testing and casting a wide net of differential diagnoses when evaluating patients with treatment-resistant anemia. This case calls for further research on the genetic contributions to β-thalassemia as well as improved ways to identify this disorder, particularly in patients who may not have a severe form that is easily diagnosed in early childhood.