Question

Sol. [Key Concept: HbS — 6th-codon mutation of the β-globin gene]

Sickle cell anaemia is an autosomal recessive disorder which is caused by the substitution of Glutamic acid by Valine, at the sixth position of the beta globin chain of the haemoglobin molecule. The substitution of amino acid in the globin protein results due to the single base substitution from GAG to GUG. Hence, GUG is responsible for the change in the shape of RBC.