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In the 100 years since sickle cell anemia (SCA) was first described in the medical literature, studies of its molecular and pathophysiological basis have been at the vanguard of scientific discovery. By contrast, the translation of such knowledge into treatments that improve the lives of those affected has been much too slow. Recent years, however, have seen major advances on several fronts. A more detailed understanding of the switch from fetal to adult hemoglobin and the identification of regulators such as BCL11A provide hope that these findings will be translated into genomic-based approaches to the therapeutic reactivation of hemoglobin F production in patients with SCA. Meanwhile, an unprecedented number of new drugs aimed at both the treatment and prevention of end-organ damage are now in the pipeline, outcomes from potentially curative treatments such as allogeneic hematopoietic stem cell transplantation are improving, and great strides are being made in gene therapy, where methods employing both antisickling β-globin lentiviral vectors and gene editing are now entering clinical trials. Encouragingly, after a century of neglect, the profile of the vast majority of those with SCA in Africa and India is also finally improving.

Original publication

DOI

10.1146/annurev-genom-083117-021320

Type

Publication Date

08/2018

Volume

19

Pages

113 - 147

Addresses

Department of Epidemiology and Demography, KEMRI/Wellcome Trust Research Programme, Kilifi, Kenya.

Keywords

Humans, Anemia, Sickle Cell, Hemoglobins, Carrier Proteins, Nuclear Proteins, Repressor Proteins, Treatment Outcome, Phenotype, Genetic Therapy