The Current State of Sickle Cell Trait: Implications for Reproductive and Genetic Counseling

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2018 Nov 30

PMID 30487130

Citations 25

Authors

Lydia H Pecker

Rakhi P Naik

Affiliations

Soon will be listed here.

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.

Citing Articles

Variability in Notification of Positive Newborn Screening Results for Sickle Cell Trait Across the United States.

Scott J, Christian J, Plazas Montana M, Miller Y, Naik R Adv Hematol. 2024; 2024:3854629.

PMID: 39735783 PMC: 11671650. DOI: 10.1155/ah/3854629.

"A Call To Action": The need for genetic counseling in Uganda.

Adzemovic T, Kabbale K, Katagirya E, Mukisa J, Wayengera M Genet Med Open. 2024; 2(Suppl 2):101879.

PMID: 39712973 PMC: 11658546. DOI: 10.1016/j.gimo.2024.101879.

Sickle Cell Screening in Adults: A Current Review of Point-of-Care Testing.

Mendez-Marti S, Zik C, Alan S, Wang H, Ershler W J Hematol. 2024; 13(3):53-60.

PMID: 38993742 PMC: 11236353. DOI: 10.14740/jh1272.

The Association of Sickle-Cell Disorders With Diabetic Retinopathy: A Large Database Study.

Chauhan M, Elhusseiny A, Sallam A Ophthalmol Sci. 2024; 4(4):100490.

PMID: 38694493 PMC: 11061721. DOI: 10.1016/j.xops.2024.100490.

Incidence Trends of Inherited Anemias at the Global, Regional, and National Levels Over Three Decades.

Tang H, Zhang N, Liu X, Xiao H, Zhang H, Zhou K J Epidemiol Glob Health. 2023; 14(1):72-85.

PMID: 38079097 PMC: 11043255. DOI: 10.1007/s44197-023-00170-9.

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