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Q.

Sickle cell anaemia is a

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a

quantitative problem due to a mutation of HBA gene

b

quantitative problem due to a mutation of HBB gene

c

qualitative problem due to a mutation of HBA gene

d

qualitative problem due to a mutation of HBB gene

answer is D.

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Detailed Solution

Sickle-cell anaemia is a qualitative problem of synthesising an incorrectly functioning globin. The defect is caused by a point mutation of the HBB gene, due to which the sixth codon of the beta-globin gene changes from GAG to GUG. This results in the substitution of glutamic acid by (Valine) at the sixth position of the beta-globin chain of the haemoglobin molecule. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to an elongated sickle-like structure.

Thalassemia is a quantitative problem of synthesising too few globin molecules.

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