In sickle cell anaemia- | vedclass

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Question

(A) Sickle cell anaemia is an autosome-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier

Vedclass · Accepted Answer

The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of $	ext{RBC}$

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(A) Sickle cell anaemia is an autosome-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene.In this disease,the defect 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 pair 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 $	ext{RBC}$ from biconcave disc to an elongated sickle-like structure.

In sickle cell anaemia$-$

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