Abstract

ROCHA, Diogo Fernandes da; VILARINHO, Laura  and  LOURO, Pedro. National newborn screening for sickle cell disease and communication of carrier status. Rev Port Med Geral Fam [online]. 2023, vol.39, n.1, pp.76-78.  Epub Mar 30, 2023. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v39i1.13435.

Portugal recently implemented a pilot project to screen for Sickle Cell Disease during national newborn screening. This project started in Lisbon and Tagus Valley region, where there is a higher frequency of African descendants. With the expansion of this screening to the rest of the country, a question arises: how to deal with cases of Sickle Cell Trait?

Keywords : Sickle cell disease; Sickle cell trait; Carrier state; Neonatal screening; Communication.

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