In which disorder change of single base pair in the gene for beta globin chain results in change of glutamic acid to valine ?

Sickle cell anaemia is a genetic disorder caused by a mutation in the gene that codes for the beta globin chain of haemoglobin. In this disorder, a single base pair change in the gene leads to the substitution of glutamic acid with valine at a specific position in the protein chain. This mutation results in the production of abnormal
haemoglobin, known as haemoglobin S.

The substitution of glutamic acid with valine alters the structure of haemoglobin, causing it to form long, rigid chains when oxygen levels are low. These chains distort the shape of red blood cells, giving them a characteristic sickle shape. The sickleshaped cells can cause blockages in blood vessels, leading to reduced oxygen supply to tissues, pain crises, anaemia and other complications associated with sickle cell anaemia.

(1) Thalassemia is caused by mutations that reduce the production of alpha or beta globin chains, but not the glutamic acid to valine substitution.

(3) Haemophilia is a genetic disorder characterised by impaired blood clotting due to deficiencies in certain
blood clotting factors. It is caused by mutations in genes related to blood clotting proteins, not the beta globin
chain. 

(4) Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which leads to the buildup of phenylalanine in the body.