Novel oxygenscan parameters differentiate unique hemolytic and inflammatory profiles associated with sickle cell disease genotypes

Résumé fourni par la source

Sickle cell disease (SCD) is caused by hemoglobin S, which alters red blood cells (RBCs) rheological properties leading to vaso-occlusion and chronic hemolysis, the main hallmarks of the disease. They drive the broad clinical spectrum of SCD, including acute complications and progressive organ damage. Oxygen gradient ektacytometry (oxygenscan) is a functional assay that measures RBC deformability and sickling tendency during an oxygen gradient. Clinical validation of oxygenscan has been limited to a few studies with modest sample sizes and inconclusive results. To address these limitations, we assessed in the SCD cohort of 679 patients, two novel oxygenscan parameters: Slope measures how rapidly RBCs sickle during deoxygenation and EI20 measures RBC deformability at a fixed pO 2 , enabling a more detailed characterization of RBC behavior. Using linear and logistic regression analysis, we demonstrate that oxygenscan parameters distinguish SCD genotypes and hydroxyurea efficacy, underscoring their potential utility in phenotype characterization and clinical evaluation. Additionally, HbSβ 0 patients are often grouped with HbSS patients due to the comparable clinical phenotype, but our results suggest less severe sickling behavior and more pronounced association with inflammation in HbSβ 0 , while HbSS patients exhibited different hemolytic profile correlated with oxygenscan parameters. We further confirm that oxygenscan parameters are associated with hydroxyurea treatment status. These results support the biological relevance of oxygenscan parameters and emphasize that longitudinal and advanced machine learning approaches are required to fully capture the SCD complexity.

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