Abstract
Sickle cell disease (SCD) is a chronic life threatening disorder, caused by the presence of structurally abnormal adult hemoglobin S (HbS). Under low oxygen saturation, HbS forms hemoglobin polymers that deform the red blood cell structure, referred to as ‘sickling’. Sickled erythrocytes result in hemolytic anemia and recurrent vaso-occlusive crisis, which lead to long-term morbidity and early death. The patient specific pO2 at which sickling starts (PoS) along with RBC deformability at normoxia (EImax) and upon deoxygenation (EImin) can be measured by oxygen gradient ektacytometry (Laser Optical Rotational Red Cell Analyzer (LoRRca)). In the GenoMed4ALL project, oxygen gradient ektacytometry data will be integrated with genomics, metabolomics and clinical data of 1000 SCD patients, allowing better characterization of SCD and development of Artificial Intelligence (AI) algorithms for personalized medicine.