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Exploring Dysregulated Plasma Metabolites in Sickle-Cell Disease Patients Using Comparative NMR-Based Metabolomics.

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  • 1Department of Chemical Sciences, Indian Institute of Science Education and Research, Berhampur, Odisha, India.

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|September 18, 2025
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Summary

Sickle-Cell Disease (SCD) involves abnormal red blood cells (RBCs). This study used NMR metabolomics in eastern India, identifying 11 key metabolites linked to glycolysis and stress in SCD patients.

Keywords:
1HNMRSCDglycineglycolysispyruvate

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Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Sickle-Cell Disease (SCD) is a prevalent autosomal recessive blood disorder.
  • Abnormal hemoglobin (Hb) causes red blood cell (RBC) sickling under low oxygen, impairing blood flow and causing hemolysis.
  • Regional variations in SCD pathophysiology exist in India, with some tribal groups showing milder symptoms.

Purpose of the Study:

  • To investigate the pathogenesis of SCD in an eastern Indian cohort.
  • To explore nongenetic factors influencing SCD using untargeted metabolomics.
  • To identify metabolic differences between SCD patients and healthy controls.

Main Methods:

  • Comparative untargeted metabolomics using 1H NMR spectroscopy.
  • Analysis of a small cohort of 26 SCD patients from eastern India.
  • Statistical analysis to identify significant metabolite differences.

Main Results:

  • Identified 29 metabolites, with 11 showing statistically significant concentration differences between SCD patients and controls.
  • Dysregulated metabolites are involved in glycolysis, hypoxic conditions, and acute stress.
  • NMR-based metabolomics revealed distinct metabolic profiles in the studied SCD cohort.

Conclusions:

  • Metabolomic profiling can reveal key differences in SCD patients.
  • Specific metabolic pathways, including glycolysis and stress responses, are altered in eastern Indian SCD patients.
  • This study provides insights into SCD pathogenesis influenced by nongenetic factors.