Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Br J Haematol. 2020 Aug;190(3):328-335. doi: 10.1111/bjh.16518. Epub 2020 Feb 17.
Sickle cell trait (SCT) is the carrier state for sickle cell disease that results from the HBB rs334 missense mutation (p.Glu6Val) in the β-globin chain of haemoglobin. While not associated with any impact on life expectancy, it has been established that SCT is associated with an increased risk of both venous thromboembolism (and in particular, pulmonary embolism) and chronic kidney disease. It is largely unknown what short- or long-term effect, if any, pregnancy has upon the risk or outcomes of these disorders. In addition, SCT has been linked with various adverse outcomes in pregnancy, ranging from maternal complications such as elevated risk of bacteriuria to potentially life-threatening entities such as pre-eclampsia and prematurity. In these scenarios also, no clear association with SCT has been established. Given the high worldwide prevalence of SCT, further studies addressing these issues are warranted.
镰状细胞特质(SCT)是一种由血红蛋白β链上 HBB rs334 错义突变(p.Glu6Val)引起的镰状细胞病的携带状态。虽然它不会影响预期寿命,但已经确定 SCT 与静脉血栓栓塞(尤其是肺栓塞)和慢性肾脏病的风险增加有关。目前尚不清楚妊娠对这些疾病的风险或结局有何短期或长期影响。此外,SCT 还与妊娠中的各种不良结局相关,从母体并发症(如菌尿风险增加)到可能危及生命的实体(如子痫前期和早产)不等。在这些情况下,也没有明确的 SCT 与之相关。鉴于 SCT 在全球的高患病率,需要进一步研究来解决这些问题。