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Which disorder is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the hemoglobin?
Which disorder is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the hemoglobin?
Updated On: Nov 6, 2024
- Phenylketonuria
- Sickle-cell Anemia
- Hemophilia
- Thalassemia
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The Correct Option is B
Solution and Explanation
Sickle-cell anemia is a genetic disorder caused by a point mutation in the hemoglobin-beta gene. This mutation leads to the substitution of Glutamic acid (Glu) with Valine (Val) at the sixth position of the beta globin chain. This single amino acid change causes hemoglobin to form fibers, leading to the characteristic sickle shape of red blood cells.
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