Understanding the Pathophysiology of Sickle Cell Anemia and Its Impact on Treatment Options
Pathophysiology of Sickle Cell Anemia The pathophysiology of sickle cell anemia : Genetic mutation and the hemo-globin molecule Source: Restriction site mutation, 11 β -globin gene. Findings: 1 Valine residue at 6-position in the 8 globin protein has replaced a glutamic acid residue. Effect: They don’t produce normal adult haemoglobin, they produce sickle haemoglobin.” Polymerization of Hemoglobin S When oxygen is released, HbS polymerizes into a long, rigid rod. That causes red blood cells to be comet-shaped or sickled. Red Blood Cell Sickling Sickled RBCs are: Hard and less flexible Susceptible to hemolysis (breaking up prematurely) Have a shorter life span (~10–20 days compared to 120 days for healthy RBCs) Vaso-occlusion Sickled cells: Become trapped in small capillaries Induce obstructions (vaso-occlusion) in blood vessels Lead to tissue ischemia, pain (sickle cell crises), and organ injury Hemolysis and Anaemia Progressive destruction of sickle cells results in: Levels of h...