Question:medium

A single amino acid substitution in a protein causes sickle-cell disease. Identify the correct statements regarding it.

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Sickle-cell disease results from a mutation in the hemoglobin gene that affects the shape and function of red blood cells.
Updated On: Jan 21, 2026
  • It is an inherited blood disorder.
  • Hydrophobic interactions between hemoglobin proteins lead to their aggregation into a fiber.
  • Glutamic acid is replaced by valine in beta-globin chain of haemoglobin.
  • The red blood cells in the patients are disc shaped and carry oxygen.
  • Capacity to carry oxygen is greatly reduced.
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The Correct Option is B

Solution and Explanation

Step 1: Understanding Sickle Cell Disease
Sickle cell disease is a genetic blood disorder resulting from a single amino acid change in hemoglobin: glutamic acid is replaced by valine. This substitution leads to hydrophobic interactions, causing hemoglobin to aggregate into fibers. These fibers deform red blood cells into a sickle shape, impairing their oxygen-carrying capacity.
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