The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)
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The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). / Grosse, Regine; Lukacs, Zoltan; Cobos, Paulina Nieves; Oyen, Florian; Ehmen, Christa; Muntau, Birgit; Timmann, Christian; Noack, Bernd.
in: PEDIATR BLOOD CANCER, Jahrgang 63, Nr. 1, 01.2016, S. 168-70.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area)
AU - Grosse, Regine
AU - Lukacs, Zoltan
AU - Cobos, Paulina Nieves
AU - Oyen, Florian
AU - Ehmen, Christa
AU - Muntau, Birgit
AU - Timmann, Christian
AU - Noack, Bernd
N1 - © 2015 Wiley Periodicals, Inc.
PY - 2016/1
Y1 - 2016/1
N2 - 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.
AB - 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.
KW - Anemia, Sickle Cell
KW - Genotype
KW - Germany
KW - Humans
KW - Infant, Newborn
KW - Neonatal Screening
KW - Prevalence
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.1002/pbc.25706
DO - 10.1002/pbc.25706
M3 - SCORING: Journal article
C2 - 26275168
VL - 63
SP - 168
EP - 170
JO - PEDIATR BLOOD CANCER
JF - PEDIATR BLOOD CANCER
SN - 1545-5009
IS - 1
ER -