Sickel cell anemia is :

Sickel cell anemia is :
  1. Characterized by elongated sickle like RBCs with a nucleus
  2. An autosomal linked dominant trait
  3. Caused by substitute of valine by glutamic acid in the beta globin chain of haemoglobin
  4. Caused by a change in a single base pair of DNA

Solution

Sickle cell anemia is caused by a point mutation in the beta-globin gene of hemoglobin. Specifically, a single base pair substitution in the DNA changes the codon from glutamic acid to valine at the sixth position of the beta-globin protein. This change causes the hemoglobin molecules to aggregate, leading to the characteristic sickle-shaped red blood cells.

Asked in: NEET 2009 (Mains)

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