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Updated: Jan 17, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review
Sigrid van der Veen1, Judith J M Jans2, Eduard J van Beers3
1Center for Benign Hematology, Thrombosis and Hemostasis - Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Heidelberglaan 100, 3584CX Utrecht, the Netherlands; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan, 6, 3584 EA Utrecht, the Netherlands.
Metabolomic profiling reveals distinct patterns in sickle cell disease (SCD) patients, linking blood metabolites to complications and therapies. Further research is needed for personalized SCD treatment.
Area of Science:
- Biochemistry and Molecular Biology
- Genetics and Genomics
- Hematology
Background:
- Sickle cell disease (SCD) exhibits significant phenotypic variability, impacting patient outcomes.
- Understanding the molecular underpinnings of SCD phenotypes and treatment responses is crucial for personalized medicine.
Purpose of the Study:
- To conduct a scoping review on the associations between blood metabolites, SCD-related complications, and therapeutic interventions.
- To identify key metabolic pathways and biomarkers relevant to SCD pathophysiology and treatment.
Main Methods:
- Systematic scoping review of 15 studies analyzing ≥10 metabolites in red blood cells, whole blood, or plasma (excluding lipidomics).
- Focused on metabolic profiling, clinical outcomes, and therapies including hydroxyurea, transfusion, and mitapivat.
Main Results:
- Metabolic profiling successfully differentiated SCD patients from healthy controls and between HbSS and HbSC genotypes.
- Significant associations were found between metabolites and SCD complications such as hemolysis, vaso-occlusive events, nephropathy, and mortality.
- Key metabolic pathways implicated include arginine, tryptophan, glutamate metabolism, glycolysis, pentose phosphate pathway, and the purine/Lands cycle.
Conclusions:
- Blood metabolite profiles offer valuable insights into SCD heterogeneity, complications, and responses to therapy.
- Gaps in current research include study design, metabolite selection, genotype representation, and exploration of certain complications/therapies.
- Standardized, large-scale metabolomics studies are essential for advancing personalized treatment strategies in sickle cell disease.
