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

The disorder is caused by a point mutation in the \(\beta\)-globin gene, resulting in the substitution of glutamic acid with valine at the sixth position of the haemoglobin molecule. This mutation causes haemoglobin molecules to polymerize under low oxygen conditions, leading to the characteristic sickle shape of red blood cells.