Explain how the sickle cell mutation results in the symptoms of the disease?

Expert Solution

Sickle cell anemia(SCA) is an autosome linked recessive disorder controllled by two alleles HbA and HbS of Hb gene.This disorder is transmitted from parents to progenies when both the parents are carrier(heterozygous) for the trait.Here homozygous individual( HbS HbS)shows the disease and heterozygous individuals (HbA HbS) are partially affected.Reason for SCA is the substitution of glutamic acid by valine( GAG to GUG) at the sixth position of beta globin chain of haemoglobin.Affected people show sickle/crescent moon shaped RBCs in blood.These RBCs die early and results in anemia due to the shortage of RBCs.These sickle shaped cells may block the flow of blood in smaller blood vessels and cause swelling and pain in hands and legs.Affected people are weak and may experience vision problems.Puberty will be delayed.We know that Hb carries oxygen to the cell for cellular respiration.Oxygen deficiency is the major reason for these symptoms.

gladiator answered 1 year ago

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