Given below is the representation of amino acid composition not the relevant translated portion of β-chain of haemoglobin, related to the shape of human red blood cells

(a) Is this representation indicating a normal human or a sufferer from certain related genetic disease? Give reason in support of your answer.

(b) What difference would be noticed in the phenotype of the normal and the sufferer related to this gene?

(c) Who are likely to suffer more from the defect related to the gene represented the males, the females or both males and females equally? And why?

(a) The representation is indicating a normal human because the mRNA of GAG is coding for glutamic acid in the 6th position and not substituted by valine in β-polypeptide chain haemoglobin.

(b) The difference that would be noticed in the phenotype of the normal and the sufferer related to this gene is that In a sufferer, the codon GAG is replaced by GUG due to which during translation of the defective mRNA, Glutamic acid is replaced by amino acid, Valine.

(c) Sickle cell anaemia is a disorder that affects the haemoglobin molecule in red blood cells.

Sickle cell anaemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutation.

Both the females and males suffer equally because sickle-cell anaemia is not a sex linked disease. It is an autosomal disease. The sickle shaped RBC will cause equal deficiency of oxygen both in male and female human beings.