TY - JOUR
T1 - The current state of sickle cell trait
T2 - Implications for reproductive and genetic counseling
AU - Pecker, Lydia H.
AU - Naik, Rakhi P.
N1 - Publisher Copyright:
© 2018 American Society of Hematology. All rights reserved.
PY - 2018/11/30
Y1 - 2018/11/30
N2 - 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.
AB - 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.
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U2 - 10.1182/asheducation-2018.1.474
DO - 10.1182/asheducation-2018.1.474
M3 - Article
C2 - 30504348
AN - SCOPUS:85058753233
SN - 1520-4391
VL - 2018
SP - 474
EP - 481
JO - Hematology (United States)
JF - Hematology (United States)
IS - 1
ER -