Abstract:
ABSTRACT: β-Thalassaemia is a disorder of haemoglobin synthesis which does not have an effective cure for a majority of patients affected. Most patients have poor quality of life and die prematurely. The basic pathophysiology of β-thalassaemia is haemolysis and ineffective erythropoiesis due to the imbalance of α-globin chains in red blood cells. Studies done on the molecular pathology and naturally occurring mutations among patients have conclusively shown that decreasing the synthesis of a-globin chains ameliorates the severity of anaemia in β-thalassaemia. A series of recent in vitro and animal studies described in this paper shows that therapeutic inhibition of α-globin synthesis is feasible through genome editing of its major enhancer and pharmacological disruption of epigenetic enzymes. These novel pathways would invariably pave the way for an effective cure for β-thalassaemia which will be available for all patients in the future.
