Division of Hematology/Oncology, Department of Medicine, Center of Excellence for Sickle Cell Disease, Center for Regenerative Medicine, Genome Science Institute, Boston University School of Medicine and Boston Medical Center, Boston, MA.
Blood. 2020 Nov 19;136(21):2392-2400. doi: 10.1182/blood.2020007645.
Fetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course, and offer prospects for curative therapy of sickle cell disease. This review focuses on (1) HbF quantitative trait loci and the geography of β-globin gene haplotypes, especially those found in the Middle East; (2) how HbF might differentially impact the pathophysiology and many subphenotypes of sickle cell disease; (3) clinical implications of person-to-person variation in the distribution of HbF among HbF-containing erythrocytes; and (4) reactivation of HbF gene expression using both pharmacologic and cell-based therapeutic approaches. A confluence of detailed understanding of the molecular basis of HbF gene expression, coupled with the ability to precisely target by genomic editing most areas of the genome, is producing important preliminary therapeutic results that could provide new options for cell-based therapeutics with curative intent.
胎儿血红蛋白 (HbF) 可以减轻镰状细胞病的病理生理学、缓和临床病程,并为其治疗提供前景。这篇综述重点关注:(1) HbF 数量性状基因座和β-珠蛋白基因单倍型的地理分布,特别是在中东发现的那些;(2) HbF 如何对镰状细胞病的病理生理学和许多亚表型产生不同的影响;(3) 在含有 HbF 的红细胞中 HbF 分布的个体间差异对临床的影响;(4) 使用药物和基于细胞的治疗方法重新激活 HbF 基因表达。对 HbF 基因表达的分子基础的详细了解与通过基因组编辑精确靶向基因组大部分区域的能力相结合,正在产生重要的初步治疗结果,这可能为具有治疗意图的基于细胞的治疗提供新的选择。