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Medientyp: E-Artikel Titel: The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area) Beteiligte: Grosse, Regine; Lukacs, Zoltan; Cobos, Paulina Nieves; Oyen, Florian; Ehmen, Christa; Muntau, Birgit; Timmann, Christian; Noack, Bernd Erschienen: Wiley, 2016 Erschienen in: Pediatric Blood & Cancer Sprache: Englisch DOI: 10.1002/pbc.25706 ISSN: 1545-5009; 1545-5017 Entstehung: Anmerkungen: Beschreibung: <jats:sec><jats:label /><jats:p>Sickle cell disease is among hereditary diseases with evidence that early diagnoses and treatment improves the clinical outcome. So far sickle cell disease has not been included in the German newborn screening program despite immigration from countries with populations at risk. To determine the birth prevalence we tested 17,018 newborns. High pressure liquid chromatography and subsequent molecular‐genetic testing were used for the detection and confirmation of hemoglobin variants. The frequency of sickle cell disease‐consistent genotypes was one in 2,385 newborns. Duffy‐blood group typing showed evidence that affected children were likely of Sub‐Saharan ancestry. An inclusion of sickle cell disease into the German newborn screening seems reasonable. Pediatr Blood Cancer 2015; 9999:XX–XX © 2015 Wiley Periodicals, Inc.</jats:p></jats:sec>