Screening for sickle cell disease: focus on newborn investigations.

Autor:	Mosca A; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy., Paleari R; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy., Palazzi G; Pediatric Unit, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy., Pancaldi A; Pediatric Unit, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy., Iughetti L; Pediatric Unit, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy., Venturelli D; Department of Transfusion Medicine, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy., Rolla R; Clinical Chemistry Laboratory, A.O.U. 'Maggiore della carità', Università del Piemonte Orientale, Novara, Italy., Pavanello E; Department of Laboratory Medicine, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, Torino, Italy., Ceriotti F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, SC Patologia Clinica, Milan, Italy., Ammirabile M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, SC Patologia Clinica, Milan, Italy., Capri S; School of Economics and Management, Cattaneo-LIUC University, Varese, Italy., Piga A; Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy., Ivaldi G; Formerly Laboratorio di Genetica Umana, Ospedali Galliera, Genova, Italy.
Jazyk:	angličtina
Zdroj:	Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2024 Jun 19; Vol. 62 (9), pp. 1804-1813. Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).
DOI:	10.1515/cclm-2024-0478
Abstrakt:	Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is at most universal and mandatory. The essential laboratory issues are reviewed, from sampling aspects (cord blood or peripheral), to the analytical (analytical methods dedicated to neonatal screening and adult carrier detection) and post analytical (reporting, informative) ones. An economic analysis based on data collected in the province of Modena is also proposed, clearly showing that neonatal screening is also beneficial from an economic point of view. (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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