Q26. Which of the following is caused due to substitution of
glutamic acid to valine on 6th position of ẞ-globin
chain of Haemoglobin molecule?
(a) Thalassaemia
(b) Haemophilia
(c) Sickle cell anaemia

Question

Q26. Which of the following is caused due to substitution of
glutamic acid to valine on 6th position of ẞ-globin
chain of Haemoglobin molecule?
(a) Thalassaemia
(b) Haemophilia
(c) Sickle cell anaemia
(d) Phenylketonuria

FirstInTest · Accepted Answer

Correct answer: c. **Sickle cell anaemia** is an autosomal recessive genetic disorder caused by a single point mutation in the gene encoding the beta-globin chain of hemoglobin. Specifically, at the sixth position of the beta-globin chain, the amino acid glutamic acid (hydrophilic) is substituted by valine (hydrophobic). This single amino acid change leads to altered hemoglobin structure (HbS), causing red blood cells to deform into a sickle shape under low oxygen conditions, leading to various symptoms and complications. Thalassaemia involves reduced production of globin chains, haemophilia is a bleeding disorder, and phenylketonuria is a metabolic disorder.

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