Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes, Digestive and Kidney Diseases National Institutes of Health, Bld 10-CRC, Rm 6-5940, MSC 1612 9000 Rockville Pike, Bethesda, MD 20892-1612, USA.
J Racial Ethn Health Disparities. 2015 Sep;2(3):330-5. doi: 10.1007/s40615-014-0077-4.
Sickle cell trait (SCT) is at the intersection of genetics, social policy, and medicine. SCT occurs in three-hundred million people worldwide and in approximately 8 % of African-Americans. There has been great debate about the influence of SCT on health. Yet data exist, albeit controversial, which suggest that SCT is associated with metabolic derangements that can lead to sudden death after vigorous physical activity, renal dysfunction, thromboembolic events, and stroke. In addition, it has even been postulated that SCT might enhance the vascular complications of diabetes. This review focuses on (a) the scientific breakthroughs that led to the discovery of hemoglobin S, sickle cell disease, and SCT, (b) the history of screening programs in the United States, (c) the incidence and etiology of exercise-related sudden death in military personnel and athletes with SCT, and (d) the data examining the potential chronic disease consequences of SCT from a metabolic, renal, and vascular perspective.
镰状细胞特质(SCT)是遗传学、社会政策和医学的交叉点。SCT 发生在全球三亿人口中,约占非裔美国人的 8%。关于 SCT 对健康的影响存在很大争议。然而,尽管存在争议,但有数据表明,SCT 与代谢紊乱有关,这种代谢紊乱可能导致剧烈体力活动后突然死亡、肾功能障碍、血栓栓塞事件和中风。此外,甚至有人推测 SCT 可能会增强糖尿病的血管并发症。这篇综述重点介绍了:(a)导致发现血红蛋白 S、镰状细胞病和 SCT 的科学突破;(b)美国的筛查计划历史;(c)SCT 患者在军事人员和运动员中与运动相关的突然死亡的发生率和病因;(d)从代谢、肾脏和血管角度检查 SCT 潜在慢性疾病后果的数据。