In the formation of the beta-globin chain of | vedclass

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

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Sickle cell anemia

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(B) Sickle cell anemia is an autosome-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene. The disease is controlled by a single pair of allele,$Hb^A$ and $Hb^S$. 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 hemoglobin molecule. This substitution occurs due to a single base substitution at the sixth codon of the $\beta$-globin gene from $GAG$ to $GUG$. The mutant hemoglobin molecule undergoes polymerization under low oxygen tension causing the change in the shape of the $RBC$ from biconcave disc to elongated sickle-like structure.

In the formation of the $\beta$-globin chain of hemoglobin,when valine replaces glutamic acid,the shape of the red blood cell becomes sickle-shaped,which leads to ....

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