Université Paris Cité, Inserm, UMR S970, PARCC, Paris, France.
Service de Médecine Interne, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, Paris, France.
Br J Haematol. 2023 Oct;203(2):319-326. doi: 10.1111/bjh.19006. Epub 2023 Aug 15.
Sickle cell anaemia (SCA) is a monogenic disease with a highly variable clinical course. We aimed to investigate associations between microvascular function, haemolysis markers, blood viscosity and various types of SCA-related organ damage in a multicentric sub-Saharan African cohort of patients with SCA. In a cross-sectional study, we selected seven groups of adult patients with SS phenotype in Dakar and Bamako based on the following complications: leg ulcer, priapism, osteonecrosis, retinopathy, high tricuspid regurgitant jet velocity (TRV), macro-albuminuria or none. Clinical assessment, echocardiography, peripheral arterial tonometry, laboratory tests and blood viscosity measurement were performed. We explored statistical associations between the biological parameters and the six studied complications. Among 235 patients, 58 had high TRV, 46 osteonecrosis, 43 priapism, 33 leg ulcers, 31 retinopathy and 22 macroalbuminuria, whereas 36 had none of these complications. Multiple correspondence analysis revealed no cluster of complications. Lactate dehydrogenase levels were associated with high TRV, and blood viscosity was associated with retinopathy and the absence of macroalbuminuria. Despite extensive phenotyping of patients, no specific pattern of SCA-related complications was identified. New biomarkers are needed to predict SCA clinical expression to adapt patient management, especially in Africa, where healthcare resources are scarce.
镰状细胞贫血症 (SCA) 是一种单基因疾病,其临床表现具有高度异质性。我们旨在调查在一个来自撒哈拉以南非洲的多中心 SCA 患者队列中,微血管功能、溶血标志物、血液粘度与各种 SCA 相关器官损伤之间的关联。在一项横断面研究中,我们根据以下并发症在达喀尔和巴马科选择了七个 SS 表型的成年患者组:腿部溃疡、阴茎异常勃起、骨坏死、视网膜病变、三尖瓣反流速度高 (TRV)、大量白蛋白尿或无并发症。进行了临床评估、超声心动图、外周动脉张力测定、实验室检查和血液粘度测量。我们探讨了生物学参数与六种研究并发症之间的统计关联。在 235 名患者中,58 名患者 TRV 升高,46 名患者骨坏死,43 名患者阴茎异常勃起,33 名患者腿部溃疡,31 名患者视网膜病变,22 名患者大量白蛋白尿,而 36 名患者无任何这些并发症。多元对应分析显示没有并发症的聚类。乳酸脱氢酶水平与 TRV 升高有关,血液粘度与视网膜病变和无大量白蛋白尿有关。尽管对患者进行了广泛的表型分析,但未确定 SCA 相关并发症的特定模式。需要新的生物标志物来预测 SCA 的临床表现,以适应患者的管理,特别是在医疗资源匮乏的非洲。