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.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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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)
- Creator
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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
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:46 AM CEST
Data provider
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Associated
- 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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Screening for sickle cell disease in newborns: a systematic review
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Introduction of universal newborn screening for sickle cell disease in Germany - a brief narrative review
Universal newborn hearing screening
Newborn screening in mucopolysaccharidoses
Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease
Focus: Interpretation? : empirical investigations on focus interpretation
Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis
High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Correction to: Newborn screening in mucopolysaccharidoses
Complex focus versus double focus : investigations on multiple focus interpretations in Hungarian
Screening for sickle cell disease in newborns: a systematic review
Screening for sickle cell disease in newborns: a systematic review
Introduction of universal newborn screening for sickle cell disease in Germany - a brief narrative review
Universal newborn hearing screening
Newborn screening in mucopolysaccharidoses
Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease
Focus: Interpretation? : empirical investigations on focus interpretation
Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis
High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Correction to: Newborn screening in mucopolysaccharidoses