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

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.

Figure 1.

Reproductive decision-making tree for SCT carriers and their physicians. Each branch in this decision tree is contingent on test or procedural availability and accessibility, and decisions are contingent on patient preferences and values. *Preimplantation genetic diagnosis may not be available because of patient location and prohibitive cost. †Chorionic villus sampling or amniocentesis for fetal diagnosis is performed as early as 11 weeks of gestation and offered through week 20; results from this testing may take 1 to 2 weeks to return. ‡Decisions to terminate pregnancy may be affected by insurance and legal restrictions.