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Sickle cell anemia is caused by a mutation in the beta globin gene resulting in a glutamic acid to valine substitution at position 6 (Glu6Val) of the hemoglobin beta subunit. Under conditions of low oxygen concentrations in the blood, hemoglobin in the patient's red blood cells assemble together to form long fibers that "sickle" the cells leading to occlusion of capillaries.A. People with sickle cell anemia inherit the mutation from both parents and so the mutation is present in the genome of every cell of the body. Why are only the red blood cells affected by the mutation?B. Based on the chemical properties of the Glu and Val side chains, where are these amino acids normally found in the folded structure of a water soluble protein?C. How then do you think the presence of valine at position 6 contributes to the aggregation of hemoglobin when oxygen levels are low?
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