P2.261: Painful Cues: A Case of an Adolescent Sickle Cell Diagnosis

Introduction: The newborn screening (NBS) program in the United States (US) began in the 1960s. Sickle cell disease (SCD) and other hemoglobinopathy screening was added to the NBS nationally in 2006; therefore, it is currently rare to diagnose children born in the US with SCD outside of the newborn period. This case describes an adolescent who presented to the emergency department (ED) with severe pain episodes and radiologic findings suggestive of SCD without a prior diagnosis.

Case Description: A 16-year-old female presented to a community ED with chest and abdominal pain after running outside in the heat at school. The pain was severe, sudden in onset, and radiated to her back. The patient described similar pain episodes since age 6, especially when doing physical activity in hot weather. She was born in the US, had presented to the ED for pain episodes before, and had diagnoses of iron-deficiency anemia and pica. Her physical exam was notable for acute distress and abdominal tenderness without hepatomegaly or splenomegaly.

At the community ED, initial workup showed Hgb 9.0 g/dL, MCV 65.9 fL, absolute reticulocyte count of 156, and reticulocyte percentage of 3.8%. She was given pain medication and transferred to our Children’s Hospital ED.

The CT Abdomen/Pelvis performed at the community ED was submitted to our institution for a second interpretation by a pediatric radiologist. This radiology interpretation noted patchy areas of sclerosis within the patient’s bones and characteristic H-shaped vertebral bodies consistent with chronic marrow infarction suggestive of SCD (Images 1&2). She was admitted to the pediatrics service and hemoglobin electrophoresis showed HbS 73%, HbF 5%, and HbA 17.3%, confirming a diagnosis of HbS-B+ thalassemia sickle cell anemia. A search of the state database located her NBS and found that she had a result of FSA for hemoglobinopathy; discussion with the patient’s mother revealed that she had been told the patient had sickle cell trait.

Discussion: This patient presented to our ED after years of pain episodes, anemia, and pica, consistent with a diagnosis of SCD. However, given that she was born during a time that the NBS was in place, this diagnosis was not considered during several medical encounters.

In our ED, the CT findings were paramount in making this diagnosis in an adolescent. A second interpretation of the CT by a pediatric radiologist led to the diagnosis of SCD.

Conclusion: While tools like the NBS exist to identify certain genetic conditions in the first days of life, it is possible for a misinterpretation or a miscommunication of the results to lead to a missed diagnosis. This case highlights the importance of revisiting clinical assumptions and carefully interpreting available data.