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The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)
Author(s) -
Grosse Regine,
Lukacs Zoltan,
Cobos Pauliieves,
Oyen Florian,
Ehmen Christa,
Muntau Birgit,
Timmann Christian,
Noack Bernd
Publication year - 2016
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25706
Subject(s) - medicine , newborn screening , disease , pediatrics , hemoglobinopathy , sickle cell anemia , genotype , genetics , biology , gene
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.