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Updated: Jan 8, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
A Case of Sickle Cell Trait Presenting With Stroke
1Internal Medicine, National Hospital of Sri Lanka, Colombo, LKA.
Abstract:
We present the case of a 41-year-old previously well smoker presenting with acute-onset, left-sided lower motor neuron facial nerve palsy, left trigeminal sensory loss, and cerebellar signs. Imaging with non-contrast CT and MRI of the brain excluded the diagnosis of a cerebellopontine angle tumor and multiple sclerosis, and was concluded as a stroke. As the patient was from a well-identified cluster area in Sri Lanka, the sickling test was done. The sickling test was positive, and we proceeded with high-performance liquid chromatography, which revealed 38.2% of hemoglobin S. The diagnosis of the trait was confirmed with genetic analysis. A CT angiogram of the major branches of the aorta revealed abnormal retrograde flow in the left vertebral artery in the Doppler study. The findings of the CT angiogram were consistent with the total occlusion at the proximal part of the left vertebral artery. Stenosis of the major extracranial arteries is observed in sickle cell disease, but it is rare. This can be attributed to chronic sickle vasculopathy. This phenomenon is not seen in sickle cell trait. Regular screening for sickle cell disease or trait is crucial in young stroke patients originating from endemic regions, even in the absence of anemia. Sickle cell trait may contribute to ischemic stroke, potentially associated with extracranial arteriopathy. Further investigation is warranted to elucidate its role in the pathogenesis of stroke.
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