Question

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

Hint:

Sickle-cell anaemia is an autosomal recessive disorder caused by a single-point mutation in the hemoglobin gene, which affects the structure of red blood cells.

Answer 1

A point mutation in the \(\beta\)-globin gene, specifically substituting glutamic acid with valine at position 6 of the haemoglobin molecule, is responsible for this disorder. Under low oxygen conditions, this mutation causes haemoglobin to polymerize, inducing the characteristic sickle shape in red blood cells.