MRCP UK EXAMINATIONS

Detailed explanation-1: -Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the -globin gene resulting in the substitution of the amino acid valine for glutamic acid in the -globin chain.

Detailed explanation-2: -The substitution of glutamate with valine causes hemoglobin tetramers to clump together.

Detailed explanation-3: -This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.