Question

(ii) Explain the genetic basis that results in the expression of this disorder.

Hint:

Sicklecell anaemia arises due to a singlepoint mutation, showcasing the profound impact of small genetic changes.

Answer 1

A point mutation in the βglobin gene, substituting glutamic acid with valine at position six of the haemoglobin protein, is the cause. Under low oxygen conditions, the mutated haemoglobin (HbS) polymerizes, resulting in cell deformation.