What is the cause of 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

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Substitution of valine for glutamate in the $\beta$-globin chain.

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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. It is caused by a point mutation in the gene coding for the $\beta$-globin chain of hemoglobin. This mutation results in the substitution of glutamic acid (Glu) by valine (Val) at the sixth position of the $\beta$-globin chain of the hemoglobin molecule. Due to this amino acid substitution,the mutant hemoglobin molecule undergoes polymerization under low oxygen tension,causing the change in the shape of the $RBC$ from biconcave disc to an elongated sickle-like structure.

Similar Questions

Which of the following is a sex-linked disease?

$A$ sex-linked recessive gene $c$ produces red-green colour blindness in humans. $A$ normal woman whose father was colourblind marries a colourblind man. Of all the girls born to these parents, what percentage is expected to be colourblind?

In humans,a gene located on the $X$-chromosome can be responsible for:

Phenylketonuria $(PKU)$ is an inborn error of metabolism caused by the expression of recessive genes $(pp)$. In this condition,the amino acid phenylalanine is not converted into which amino acid,and what type of genetic disorder is it?

$A$ - Sickle-cell anaemia is a sex-linked recessive trait.
$R$ - This disease is controlled by more than two pairs of alleles.

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