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Updated: Dec 22, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Clinical, laboratory, and genetic risk factors for thrombosis in sickle cell disease

Andrew Srisuwananukorn1, Rasha Raslan1, Xu Zhang1

  • 1Sickle Cell Center, Department of Medicine, University of Illinois at Chicago, Chicago, IL.

Blood Advances
|May 9, 2020
PubMed

Insights

Sickle cell disease (SCD) patients face a high risk of thrombosis. Key predictors include genotype, age, and specific gene variants, highlighting the need for integrated risk assessment.

Area of Science:

  • Hematology
  • Genetics
  • Epidemiology

Background:

  • Sickle cell disease (SCD) patients exhibit a significantly elevated risk of thrombosis compared to the general population.
  • The precise mechanisms and risk factors underlying this increased thrombotic risk in SCD remain incompletely understood.

Purpose of the Study:

  • To investigate the incidence and identify predictors of thrombotic events in a large cohort of pediatric and adult SCD patients.
  • To explore the association of clinical, laboratory, and genetic factors with stroke and venous thromboembolism (VTE) in SCD.

Main Methods:

  • Retrospective, longitudinal cohort study of 1193 SCD patients from January 2008 to December 2017.
  • Identification of SCD diagnosis and thrombotic complications via ICD coding and medical chart review.
  • Extraction of clinical, laboratory, and genetic data, including thrombomodulin gene variants.

Main Results:

  • Over a median follow-up of 6.4 years, 17.4% of SCD patients experienced 352 thrombotic events (64 strokes, 288 VTEs).
  • Stroke risk factors included older age, HbSS/Sβ0 genotype, and lower Hemoglobin F (HbF) levels. VTE risk was linked to lower eGFR, hydroxyurea use, HbSS/Sβ0 genotype, higher WBC counts, and higher Hb.
  • Thrombomodulin gene variants (rs2567617 and rs1998081) were associated with increased thrombosis risk in this SCD cohort.

Conclusions:

  • Thrombotic complications are frequent in SCD patients.
  • Both traditional and SCD-specific factors, including clinical, laboratory, and genetic markers, contribute to thrombotic risk.
  • Further research integrating these diverse risk factors is crucial for improving thrombosis prediction and management in SCD.

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