What is the cause of sickle cell anemia?

Name: Exam Paper Generator | JEE NEET Paper Generator | Vedclass
Brand: Vedclass
Rating: 5 (35 reviews)

Question

(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

Vedclass · Accepted Answer

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

Vedclass · Answer

(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

Give differences: Mendelian disorders and Chromosomal disorders.

$A$: The possibility of a female becoming a haemophilic is extremely rare.
$R$: Mother of such a female has to be a carrier and the father should be haemophilic.

Study the pedigree chart of a certain family given below and select the correct conclusion which can be drawn for the character.

The gene for colour blindness is located on

Which of the following is a sex-linked disease?

Vedclass Test Series

Exam Paper Generator

Online Exam Module