Abstract
Sickle cell disease (SCD) is a hereditary disorder characterized by the production of structurally abnormal hemoglobin S (HbS) in red blood cells (RBCs). Under low oxygen saturation, HbS polymerizes, causing RBCs to deform, leading to hemolytic anemia, recurrent vaso-occlusive episodes (VOE) and organ damage. VOE are unpredictable and result in long-term morbidity and early mortality.
RBC deformability and sickling tendency can be assessed ex vivo using oxygen gradient ektacytometry (oxygenscan). Key patient specific parameters are RBC deformability at normoxia (EImax), deformability upon deoxygenation (EImin), and pO2 at which sickling is initiated (PoS). In this study we developed two novel parameters: Slope that reflects how rapidly RBCs sickle during deoxygenation and the EI20 that is RBC deformability measured at a fixed pO2 of 20mmHg. Within GenoMed4ALL project clinical and laboratory data is integrated with oxygenscan parameters to enable early recognition of disease severity and individualize treatment options, addressing a critical need for precision medicine in SCD.
The aim is to explore how 2 novel parameters (Slope, EI20) perform compared to key oxygenscan parameters (EImin, EImax, PoS) in a multi-national cohort study in regard to correlations with laboratory markers of SCD severity.