The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).
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.
Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Regine
R
Grosse
Newborn Screening and Metabolic Diagnostics, Center of Diagnostics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Zoltan
Z
Lukacs
Newborn Screening and Metabolic Diagnostics, Center of Diagnostics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Paulina Nieves
PN
Cobos
Newborn Screening and Metabolic Diagnostics, Center of Diagnostics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Florian
F
Oyen
Bernhard-Nocht-Institute for Tropical Medicine, Hamburg, Germany.
Christa
C
Ehmen
Bernhard-Nocht-Institute for Tropical Medicine, Hamburg, Germany.
Birgit
B
Muntau
Bernhard-Nocht-Institute for Tropical Medicine, Hamburg, Germany.
Christian
C
Timmann
Bernhard-Nocht-Institute for Tropical Medicine, Hamburg, Germany.
Bernd
B
Noack
D000755:Anemia, Sickle Cell / Q000453:epidemiology* / Q000517:prevention & control*; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods; D015995:Prevalence
hemoglobin; hemoglobinopathies; red blood cell disorders; sickle cell anemia; sickle cell disease