Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report

Beta-thalassemia is an autosomal recessive hemoglobinopathy that can result in microcytic hypochromic anemia, splenomegaly, hypercoagulability, and long-term sequelae. Beta-thalassemia intermedia, specifically, is diagnosed based on the moderate severity of illness, which does not carry the early symptomatic urgency of beta-thalassemia major, although patients of both often become chronically or intermittently transfusion-dependent. A presenting symptom may be splenomegaly, which is most efficiently detected with a combination of physical examination and point-of-care ultrasound (POCUS). We present the case of a 25-year-old male patient with no significant past medical history who presented to the emergency department with abdominal discomfort for one week. The history of present illness, review of systems, and physical exam were nonrevealing. An ultrasound was performed to rule out renal colic; however, he was incidentally found to have an enlarged and infarcted spleen. This unexpected discovery warranted a laboratory workup, which indicated beta-thalassemia intermedia. His diagnosis was confirmed with serum protein electrophoresis and he was thereafter followed by hematology. Beta-thalassemia intermedia can present suddenly in adulthood, despite a benign past medical history. Splenomegaly may be a presenting symptom and can be effectively detected with a physical exam plus POCUS. Failure to detect these subtleties can lead to potentially life-threatening conditions such as profound anemia, thromboembolic accidents, pulmonary hypertension, and pathological fractures. This case demonstrates the importance of utilizing POCUS in combination with a physical examination to attain a comprehensive perspective of anatomy, even in those patients fast-tracked in the emergency department.