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Pathology · single question

Sickle cell anemia results from which type of DNA mutation in the beta-globin gene?

  1. Nonsense mutation
  2. Missense mutation
  3. Silent (sense) mutation
  4. Frameshift mutation
Show answer and explanation

Correct answer: B. Missense mutation

Sickle cell disease is caused by a single point (missense) mutation in the beta-globin gene (GAG→GTG), substituting valine for glutamic acid at position 6 of the beta chain. This single amino acid change causes hemoglobin S to polymerize under low-oxygen conditions, distorting red cells into the characteristic sickle shape.

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