Question:

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: Sep 20, 2025
  • 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: Understand sickle
-cell disease.

Sickle
-cell disease is an inherited blood disorder caused by a single amino acid substitution in the hemoglobin protein, where glutamic acid is replaced by valine. This substitution creates hydrophobic interactions that cause hemoglobin to aggregate and form fibers. These fibers distort the red blood cells, making them sickle
-shaped and reducing their ability to carry oxygen.
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