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Pathophysiology and recent therapeutic insights of sickle cell disease

Shah, Firdosh, Dwivedi, Mitesh·2020·Annals of Hematology
DOI 10.1007/s00277-020-03977-9
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Abstract

Sickle cell disease (SCD) is an autosomal recessive blood disorder which occurs due to point mutation in the β-globin chain of hemoglobin. Since the past decades, various therapies have been put forth, which are based on obstructing pathophysiological mechanisms of SCD including inhibition of Gardos channel and cation fluxes which in turn prevents sickle erythrocyte destruction and dehydration. The pharmacological approaches are based on the mechanism of reactivating γ-globin expression by utilizing fetal hemoglobin (HbF)-inducing drugs such as hydroxyurea. In SCD, gene therapy could be considered as a promising tool which involves modifying mutation at the gene-specific target by either promoting insertion or deletion of globins. Although there are various therapies emerged so far in the treatment of SCD, many of them have faced a major setback in most of developing countries in terms of cost, unavailability of expertise, and suitable donor. Therefore, in addition to pathophysiological aspects, this review will discuss new advancements and approaches made in the therapeutic domain of SCD including a viewpoint of modulating hemoglobin in SCD by the intervention of probiotics.

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Metadata

Authors
Shah, F., & Dwivedi, M.
Venue
Annals of Hematology
Publisher
Springer Science and Business Media LLC
Published
2020-03-10
Volume
99
Issue
5
Pages
925-935
ISSN
  • 0939-5555
  • 1432-0584
DOI
10.1007/s00277-020-03977-9
Cited by
36
References
10
Language
en
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