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.

journal_name

Blood

journal_title

Blood

authors

Pecker LH,Naik RP

doi

10.1182/blood-2018-06-848705

subject

Has Abstract

pub_date

2018-11-29 00:00:00

pages

2331-2338

issue

22

eissn

0006-4971

issn

1528-0020

pii

blood-2018-06-848705

journal_volume

132

pub_type

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