The molecular mechanism responsible for HbSC retinopathy may depend on the action of angiogenesis-related genes ROBO1 and SLC38A5.

Purpose: HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that can progress to vision loss. This study aimed to identify differences in the expression of endothelial cell-derived molecules associated with pathophysiology of proliferative sickle cell retinopathy (PSCR). mRNA sequencing (RNAseq) was used to compare the gene expression profile of circulating endothelial colony-forming cells from patients with SC hemoglobinopathy and proliferative retinopathy (n=5), versus SC patients without retinopathy (n=3).

【研究目的】HbSC病作为镰状细胞病的轻症亚型，视网膜受累频率更高，患者增殖性视网膜病变发生率更高，且该病变可进展为视力丧失。本研究旨在明确与增殖性镰状细胞视网膜病变（proliferative sickle cell retinopathy，PSCR）病理生理机制相关的内皮细胞衍生分子的表达差异。本研究采用mRNA测序（RNA sequencing，RNAseq）技术，对比了伴增殖性视网膜病变的SC血红蛋白病患者（n=5）与无视网膜病变的SC患者（n=3）的循环内皮集落形成细胞（circulating endothelial colony-forming cells）的基因表达谱。