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<p>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<sub>2</sub>, 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<sup>0</sup> 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<sup>0</sup>, 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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年8月3日

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  • Amira Idrizovic,
  • Marissa J.M. Traets,
  • Anna Collado Gimbert,
  • Sara Reidel,
  • Sigrid van der Veen,
  • Anne-Laure Pham Hung D’Alexandry D’Orengiani,
  • Mirco D’Agnolo,
  • Emmanuel Adu,
  • Mickael Marin,
  • Emmanuelle Bourdelier,
  • Elisabetta Mezzalira,
  • Betzabel Cajiao Garcia,
  • Santiago Zazo,
  • Juan Parras,
  • Patricia Alonso de Apellániz,
  • Cesare Rollo,
  • Tiziana Sanavia,
  • David Beneitez,
  • Marta García Bernal,
  • Griselda Vallès-Cardona,
  • Maria Teresa Coll Sibina,
  • Ricard López,
  • Anabel Irina Rodríguez Pebé,
  • Montserrat Torrent,
  • Bart J. Biemond,
  • Erfan Nur,
  • Karin Fijnvandraat,
  • Saskia EM Schols,
  • Anita W. Rijneveld,
  • Marjon H. Cnossen,
  • Aida Kidane,
  • Nicolas Hebert,
  • Maria Paola Boaro,
  • Slimane Allali,
  • Caroline Le Van Kim,
  • Anna Ruiz-Llobet,
  • Federico Alvarez,
  • Piero Fariselli,
  • Raffaella Colombatti,
  • Pablo Bartolucci,
  • Mariane De Montalembert,
  • Richard van Wijk,
  • Eduard J. van Beers,
  • Maria del Mar Mañú-Pereira,
  • Minke A.E. Rab

摘要

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 pO2, 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, HbSβ0 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 HbSβ0, 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.