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Sickle Cell Anaemia- A Synopsis of the Inherited Ailment

Chatterjee A, Agrawal A, Adapa D and Sarangi TK

Sickle Cell Anaemia (SCA) is one of the most prevalent monogenic disorders. The formation of polymerised haemoglobin leading to erythrocyte rigidity and appearance of characteristic sickle-shaped Red blood Cells (RBCs) resulting in vascular occlusion and haemolysis is central to the molecular pathogenesis of the disease. A major drawback of the disease in children is the development of cerebrovascular disease, hypoxia, and neuro-cognitive impairment. The recurrent episodes of vascular occlusion and inflammation of the vessels lead to progressive organ damage which becomes apparent with age. In addition to hydroxyurea and butyrate treatments, novel methods such as gene therapy and others to prevent complications from SCA are being evaluated. This article reviews the diagnostic approaches, therapies and advancements in SCA treatment with particular emphasis on the future perspective of research towards a cure for SCA.