Devising a cure for β-thalassaemia by targeting α-globin

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Date

2019

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Volume Title

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The Sri Lanka College of Haematologists

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.

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Not indexed in MEDLINE

Keywords

thalassaemia

Citation

The Sri Lanka Journal of Haematology. 2019; 11(1):3-6

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