Screening for sickle cell disease: focus on newborn investigations
Abstract: 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.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Screening for sickle cell disease: focus on newborn investigations ; volume:62 ; number:9 ; year:2024 ; pages:1804-1813 ; extent:10
Clinical chemistry and laboratory medicine ; 62, Heft 9 (2024), 1804-1813 (gesamt 10)
- Urheber
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Mosca, Andrea
Paleari, Renata
Palazzi, Giovanni
Pancaldi, Alessia
Iughetti, Lorenzo
Venturelli, Donatella
Rolla, Roberta
Pavanello, Enza
Ceriotti, Ferruccio
Ammirabile, Massimiliano
Capri, Stefano
Piga, Antonio
Ivaldi, Giovanni
- DOI
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10.1515/cclm-2024-0478
- URN
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urn:nbn:de:101:1-2407291836491.269039311191
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:46 MESZ
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Beteiligte
- Mosca, Andrea
- Paleari, Renata
- Palazzi, Giovanni
- Pancaldi, Alessia
- Iughetti, Lorenzo
- Venturelli, Donatella
- Rolla, Roberta
- Pavanello, Enza
- Ceriotti, Ferruccio
- Ammirabile, Massimiliano
- Capri, Stefano
- Piga, Antonio
- Ivaldi, Giovanni
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