Key Nigel S, Connes Philippe, Derebail Vimal K
Division of Hematology/Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Laboratoire CRIS EA647, Section 'Vascular Biology and Red Blood Cell', Université Claude Bernard Lyon 1, Lyon, France.
Br J Haematol. 2015 Jul;170(1):5-14. doi: 10.1111/bjh.13363. Epub 2015 Mar 7.
Worldwide, sickle cell trait is a highly prevalent gene carrier state. While generally a benign condition with a normal life expectancy, it is becoming increasingly clear that the sickle trait is associated with certain adverse outcomes. This article will focus on three of these outcomes, namely exertional rhabdomyolysis and sudden death, chronic renal dysfunction, and venous thromboembolism. In each case, the epidemiological evidence for the association is reviewed, together with the existing data on potential underlying mechanisms. Because newborn screening programmes for sickle cell anaemia also identify those with sickle cell trait, it is imperative that further studies determine what, if any, preventive measures can be taken to reduce the burden of these uncommon but potentially morbid complications in affected individuals.
在全球范围内,镰状细胞性状是一种高度普遍的基因携带状态。虽然一般来说它是一种良性状况,预期寿命正常,但越来越明显的是,镰状性状与某些不良后果相关。本文将聚焦于其中三种后果,即运动性横纹肌溶解症和猝死、慢性肾功能不全以及静脉血栓栓塞症。在每种情况下,都会回顾该关联的流行病学证据以及关于潜在潜在机制的现有数据。由于镰状细胞贫血的新生儿筛查项目也能识别出具有镰状细胞性状的个体,因此必须进行进一步研究,以确定是否可以采取任何预防措施来减轻这些罕见但可能致病的并发症给受影响个体带来的负担。