Sickle cell disease (SCD) is caused by a mutation in which gene product, and what is the primary pathologic change in red blood cells?
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Correct answer: Hemoglobin β-chain defect causing rigid sickled cells
SCD arises from a point mutation in the β-globin gene, causing abnormal hemoglobin (HbS). Under low oxygen tension, red blood cells distort into sickle shapes — rigid and prone to hemolysis and vaso-occlusion.
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