| Literature DB >> 26275168 |
Regine Grosse1, Zoltan Lukacs2, Paulina Nieves Cobos2, Florian Oyen2, Christa Ehmen3, Birgit Muntau3, Christian Timmann3, Bernd Noack3.
Abstract
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.Entities:
Keywords: hemoglobin; hemoglobinopathies; red blood cell disorders; sickle cell anemia; sickle cell disease
Mesh:
Year: 2015 PMID: 26275168 DOI: 10.1002/pbc.25706
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167