Sickle Cell Disease

Sickle cell disease is an inherited disorder of hemoglobin synthesis. The abnormal hemoglobin causes a normocytic, hemolytic anemia with variably misshapen RBCs that are susceptible to morphing into a sickle shape. Sickled cells obstruct small vessels, leading to ischemia and necrosis of different tissues. Sickle cell disease results from a homozygous single amino acid substitution (valine for glutamate) in position 6 of the beta-globin chain of hemoglobin. Unstable RBC with a shortened survival that under stress becomes sickle shaped. Patients with sickle cell trait are affected only under conditions of severe stress.




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