C. G. Bhakta Institute of Biotechnology, Faculty of Science, Uka Tarsadia University, Maliba Campus, Gopal Vidyanagar, Bardoli-Mahuva Road, Dist. Surat, Tarsadi, Bardoli, Gujarat, 394350, India.
Ann Hematol. 2020 May;99(5):925-935. doi: 10.1007/s00277-020-03977-9. Epub 2020 Mar 10.
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.
镰状细胞病(SCD)是一种常染色体隐性遗传病,是由于血红蛋白β-珠蛋白链的点突变引起的。几十年来,已经提出了各种治疗方法,这些方法基于阻断 SCD 的病理生理机制,包括抑制 Gardos 通道和阳离子流,从而防止镰状红细胞破坏和脱水。这些药理学方法基于通过利用胎儿血红蛋白(HbF)诱导药物(如羟基脲)来重新激活γ-珠蛋白表达的机制。在 SCD 中,基因治疗可以被认为是一种有前途的工具,它涉及通过促进球蛋白的插入或缺失来修饰特定基因的突变。尽管迄今为止已经出现了各种治疗 SCD 的方法,但在大多数发展中国家,由于成本、专业知识的缺乏和合适的供体,其中许多方法都遇到了重大挫折。因此,除了病理生理学方面,本综述还将讨论 SCD 治疗领域的新进展和方法,包括通过干预益生菌来调节 SCD 中血红蛋白的观点。