ArticleEJHaem2026
Probing Red Blood Cell Deformability in Sickle Cell Disease, Sickle Cell Trait, and Healthy Controls by Ektacytometry.
Article in EJHaem, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03685721 (Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients With Sickle Cell Disease), which is not on this map. Not yet cited in PubMed.
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Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and ATP Activities in Red Blood Cells of Patients With Sickle Cell Disease
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Abstract
Introduction: Red blood cell (RBC) deformability is a key determinant of sickle cell disease (SCD) pathophysiology. We evaluated RBC deformability across HbSS, HbAS, and HbAA genotypes and investigated its associations with hemolysis, fetal hemoglobin (HbF), coinherited α-thalassemia, hydroxyurea treatment, and the Methods: We used Lorrca ektacytometry to compare RBC deformability across 174 participants with HbSS, HbAS, and HbAA genotypes. Deformability was evaluated across a range of shear stresses, osmotic pressures, and oxygen tensions. Associations between deformability and hemolysis markers, HbF levels, α-thalassemia status, hydroxyurea use, and the Results: HbSS RBCs showed markedly reduced deformability across all shear stresses, osmotic pressures, and oxygen tensions compared to HbAS and HbAA RBCs. Reduced deformability correlated with elevated markers of hemolysis, including lactate dehydrogenase (LDH) and bilirubin. Higher HbF levels were independently associated with improved RBC deformability, whereas coinherited α-thalassemia was not associated with improved deformability. Hydroxyurea use was associated with significantly improved deformability. The Conclusion: RBC deformability is substantially impaired in HbSS and is associated with markers of hemolysis and several genetic and treatment-related factors. These findings support Lorrca ektacytometry as a robust biomarker platform for assessing RBC health and treatment response in SCD. Trial Registration: ClinicalTrials.gov identifier: NCT03685721.
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