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镰状细胞特征的现状:对生殖和遗传咨询的影响。

The current state of sickle cell trait: implications for reproductive and genetic counseling.

机构信息

Division of Hematology, Department of Pediatrics, and.

Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, MD.

出版信息

Hematology Am Soc Hematol Educ Program. 2018 Nov 30;2018(1):474-481. doi: 10.1182/asheducation-2018.1.474.

Abstract

Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism. Increasing knowledge about these clinical outcomes can help inform genetic counseling recommendations. Expanding research and clinical efforts are needed to ensure that the promises of modern and precision medicine can be delivered to the millions of SCT carriers and their children.

摘要

镰状细胞特质(SCT)在新生儿筛查期间所确定的携带者状态中是独一无二的。与其他罕见隐性疾病的杂合状态不同,SCT 在世界范围内的许多地区极为普遍,使镰状细胞病成为全球最常见的单基因疾病之一。由于这种高频率,生殖咨询至关重要。此外,与其他携带者状态不同,SCT 似乎是几种临床并发症的危险因素,如剧烈运动损伤、慢性肾脏病和静脉血栓栓塞。增加对这些临床结果的了解有助于为遗传咨询建议提供信息。需要扩大研究和临床工作,以确保现代和精准医学的承诺能够惠及数以百万计的 SCT 携带者及其子女。

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