Undergraduate Medical Education Works

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Browsing Undergraduate Medical Education Works by Subject "acute chest syndrome"

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    Identifying Sickle Cell Disease Beyond the Neonatal Period: A Case Series
    (2025-03-28) Gupta, Soumya; Slaughter, Mary; Li, Katherine; Harter, Michaela; Goubeaux, Derrick L.; Drayton Jackson, Meghan
    Background: Sickle Cell Disease (SCD) is an autosomal recessive chronic condition that causes hemolytic anemia and vaso-occlusive episodes that can present as dactylitis, pain, acute chest syndrome (ACS), and other complications. For early detection and intervention, newborn screening (NBS) for SCD is mandated in all 50 states. However, this screening is not readily available in many other areas of the world. Case Description : Three children who immigrated from countries outside the United States were diagnosed with SCD beyond the neonatal period. A 17-year-old female adopted from Kenya presented to the ER with dyspnea after starting oral contraceptives and was found to have a pulmonary embolism. Hemoglobin (Hgb) was 8.1 g/dl. She rapidly deteriorated and required intubation. Bronchoalveolar lavage revealed straw-colored fluid, a rare finding consistent with ACS. Electrophoresis confirmed HbSS. A 7-year-old male from the Dominican Republic presented with pneumonia and pain. Hgb was 8.4 g/dl. There was familial anemia, but he had not received work-up due to insufficient insurance coverage. Electrophoresis showed HbSS. A 7-year-old male from Nigeria presented to the ED after an episode of gross hematuria. His baseline Hgb was 10 g/dl, and his mother had SCD. Electrophoresis showed HbSS. Clinical Significance: Sickle cell disease is a multisystem disorder with complications that can lead to severe illness. Physicians must maintain high clinical suspicion for SCD in patients who did not receive NBS presenting with recurrent pain, severe infection, end organ damage, or anemia. Diagnosis is confirmed with hemoglobin electrophoresis. Conclusion: This case series highlights the need for heightened SCD awareness, particularly in those from areas without universal NBS. Providers must obtain relevant family history, recognize SCD’s diverse presentations, and work to reduce healthcare access barriers to ensure that patients receive timely diagnosis and care.