In sickle-cell anaemia, the defect is caused by the substitution of ____(i)____ by ____(ii)_____ in the ___(iii)___ position of the beta-globin chain of the haemoglobin molecule.

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The defect in sickle-cell anaemia is caused by the substitution of Glutamic acid (Glu) by Valine (Val) 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 at the sixth codon of the beta-globin gene from GAG to GUG. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to elongated sickle-like structure.

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