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

key information

source: Blood

year: 2018

authors: Pecker LH, Naik RP

summary/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 appears 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.

organization: Johns Hopkins University, USA

DOI: 10.1182/blood-2018-06-848705

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