Breathing and Exchange of GasesMedium

Question

Which one of the following disorders is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the hemoglobin molecule?

Options

A.Thalassemia
B.Sickle-cell anaemia
C.Phenylketonuria
D.Haemophilia

Solution

Sol. [Key Concept: Sickle-cell anaemia — Glu→Val substitution in β-globin]

Sickle cell anaemia is an autosome linked recessive trait that can be transmitted from parents to offsprings when both partners are carrier for the gene. The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at sixth position of beta globin chain of haemoglobin molecule.

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