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

It is caused by a point mutation in the βglobin gene, where glutamic acid is replaced by valine at the sixth position of the haemoglobin protein. The mutated haemoglobin (HbS) polymerizes under low oxygen conditions, leading to cell deformation.