Question:
What is sickle cell anemia?
Author: H KAnswer:
Point mutation in beta globin gene leading to sickle hemoglobin, inherited group of disorders characterized by presence of hemoglobin S (sickle cell anemia/beta thalassemia/SC disease..) Auto recessive, hallmarks are vaso-occlusive phenomena and hemolytic anemia. Valine (GTG) for glutamic acid (GAG) 6th amino acid substitution in beta globin, the resulting tetramer becomes poorly soluble when deoxygenated
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