Sickle cell disease (SCD) is a recessive monogenic disease where a single nucleotide mutation of the HBB gene, encoding the β-globin chain of hemoglobin (Hb), leads to the synthesis of HbS. Deoxygenated HbS polymerizes, changing the shape and plasticity of red blood cells (RBC) which exhibit rheological abnormalities resulting in hemolytic anemia. Concomitantly, vaso-occlusion crises (VOC) cause ischemic tissue damage resulting in severe pain and organ failure. Homozygous HbS/HbS is the most common form of SCD, but three other major phenotypes are defined, respectively HbS/HbC, HbS/β+ and HbS/β0 (association with β-thalassemia) [1].
