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Hematology

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Question:

What is sickle cell anemia?

Author: H K



Answer:

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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H K
H K