Walufu Ivan Egesa, Gloria Nakalema, William M Waibi, Munanura Turyasiima, Emmanuel Amuje, Gloria Kiconco, Simon Odoch, Patrick Kumbowi Kumbakulu, Said Abdirashid, Daniel Asiimwe
Sickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased hemolysis of erythrocytes and microvascular occlusion, ischemia-reperfusion injury, and tissue infarction, ultimately causing multisystem end-organ complications. Sickle cell anemia (HbSS) is the most common and most severe genotype of SCD, followed by HbSC, HbS β 0 thalassemia, HbS β +thalassemia, and rare and benign genotypes...
2022: International Journal of Pediatrics