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Updated: Mar 13, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism
Patcharee Komwilaisak1, Werasak Sasanakul2, Ampaiwan Chuansumrit2
1Faculty of Medicine, Department of Pediatrics, Srinagarind Hospital, Khon Kaen University, Khon Kaen, Thailand.
Abstract:
The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8-30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis. PS mutations were identified in four patients: p.R355C, p.G336D, p.E67A, and p.N188KfsX9. p.N188KfsX9 is a novel mutation with less than 20% PS activity noted in heterozygotes.
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