镰状细胞病的全球健康危机和干细胞治疗作为一种可行治疗方法的影响

Hannah Chappell, V. Gallicchio
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摘要

镰状细胞病是一种遗传性血液学疾病,该基因的存在会影响血红蛋白的功能,导致其聚合并形成异常的镰状红细胞。血管闭塞通常与该疾病有关,因为形状异常的红细胞无法在身体的微血管中移动并被困在血管中,导致患者疼痛发作,这被认为是该疾病最突出和最痛苦的症状之一。在对这种疾病的各种治疗形式进行调查的过程中,某些方法因其成功实施或有希望的持续结果而脱颖而出。羟基脲在这些形式中脱颖而出,成为领跑者,因为它已在乌干达等资源匮乏的国家进行了研究,并突出了使其成本低且易于分发的几个因素。干细胞疗法和crispr基因编辑技术也是有希望的治疗形式,尽管个体会导致不同的表型表达。父母双方都需要携带这种基因才能遗传这种疾病。纯合子个体患镰状细胞性贫血,而杂合子个体被证明对对抗疟疾有益。在疟疾高发地区,镰状细胞性贫血的高流行率与杂合性基因组成有关。高发地区是由于地方和公共卫生决策者缺乏认识[10]。镰状细胞病针对某些种族群体,包括来自中南美洲的西班牙裔美国人、中东人、亚洲人、印度人和地中海人后裔,最常见于非洲人后裔和撒哈拉以南非洲地区。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Global Health Crisis Of Sickle Cell Disease And The Impact Of Stem Cell Therapy As A Viable Treatment
S ickle cell disease is an inherited hematological disorder where the presence of this gene can impact the function of hemoglobin, causing it to polymerize and form the abnormal sickle red blood cells. Vascular occlusion is usually associated with this disease, as the abnormal shaped red blood cells are unable to move throughout microvasculature of the body and get trapped in vessels, causing a pain episode for patients which is referred to as being one of the most prominent and agonizing symptoms of the disease. Throughout the investigation of various forms of treatment for this disease, specific methods stand out from others with successful implementation or promising ongoing results. Hydroxyurea stands out among these various forms as a frontrunner as it has been investigated in low-resource countries such as Uganda and highlights several factors that make it low-cost and easily distributable. Stem cell therapy and CRISPR-gene editing technology are also promising forms of treatment, although individuals result in different phenotypic expressions. Both parents need to carry the gene in order for the disease to be inherited. Homozygous individuals develop sickle cell anemia, while heterozygous individuals are proven beneficial against fighting malaria [6]. High prevalence of sickle cell anemia is seen with the heterozygous genetic makeup in areas where levels of malaria are high [6]. High incidence areas are due to the lack of awareness among both local and public health policy makers [7]. Sickle cell disease targets certain ethnic groups including Hispanic americans from central and south America, people of middle eastern, Asian, Indian, and Mediterranean descent, and most seen in people of African descent and the sub-Saharan Africa region [4].
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