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 by The American Society of Hematology.
PY - 2018/11/29
Y1 - 2018/11/29
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/blood-2018-06-848705
DO - 10.1182/blood-2018-06-848705
M3 - Review article
C2 - 30487130
AN - SCOPUS:85057839989
SN - 0006-4971
VL - 132
SP - 2331
EP - 2338
JO - Blood
JF - Blood
IS - 22
ER -