Question

What are the molecular genetic and pathological differences
between β-thalassaemia and sickle cell disease? and give an account of current status and future prospects of gene
therapy for these haemoglobinopathies. (min 500words)

Answer 1

Both the diseases are inherited genetic diseases and are caused by changes in normal physiology of the haemoglobin. Haemoglobin has two polypeptide chains alpha and beta. In Beta thalassaemia, the Beta chain is normal but the production of the beta polypeptide is reduced or absent. In sickle cell anemia there is point mutation in primary sequence of the Beta polypeptide which changes the structure and makes it an abnormal polypeptide which doesnt function properly because of which the RBCs are shaped as a sickle.