Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Autor: | Gwendolyn Gramer, Lena Muckenthaler, Saida Awad, Martin Lindner, Thomas Bruckner, Martina U. Muckenthaler, Georg F. Hoffmann, Margit Happich, Joachim B. Kunz, Andreas E. Kulozik, Jürgen G. Okun |
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Rok vydání: | 2015 |
Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Population Disease Anemia Sickle Cell Compound heterozygosity Sickle Cell Trait Cohort Studies 03 medical and health sciences symbols.namesake 0302 clinical medicine Neonatal Screening hemic and lymphatic diseases Germany Epidemiology medicine Prevalence Humans 030212 general & internal medicine education Sanger sequencing Sickle cell trait education.field_of_study Newborn screening business.industry Infant Newborn Hematology General Medicine medicine.disease 030220 oncology & carcinogenesis symbols Female Dried Blood Spot Testing business Cohort study |
Zdroj: | Annals of hematology. 95(3) |
ISSN: | 1432-0584 |
Popis: | Children with sickle cell disease (SCD) benefit from newborn screening, because life-threatening complications can be prevented by pre-symptomatic diagnosis. In Germany, the immigration of people from endemic countries is steadily growing. Comprehensive data about the epidemiology and prevalence of SCD in Germany are however lacking, and SCD is not included in the national newborn screening program. We provide data on the prevalence of SCD in a population from both urban and rural areas in Southwest Germany. Anonymized dried blood spots from 37,838 unselected newborns were analyzed by allele-specific PCR for the HbS mutation. Samples tested positive were subjected to Sanger sequencing of the entire β-globin coding sequence firstly to validate the screening and secondly to identify compound heterozygous SCD patients with other mutations of the β-globin gene. We identified 83 carriers of the sickle cell trait, three compound heterozygous SCD patients (two with sickle cell-β-thalassemia, one with sickle cell-Hb Tianshui) but no homozygous SCD patients. The novel molecular method and strategy for newborn screening for SCD presented here compares favorably in terms of sensitivity (1.0 for homozygous HbS, 0.996 for heterozygous HbS), specificity (0.996), practicability, and costs with conventional biochemical screening. Our results demonstrate a significant prevalence of SCD of approximately 1:12,000 in an unselected urban and rural population in Southwest Germany. Together with previously published even higher results from exclusively urban populations in Berlin and Hamburg, our data provide the basis for the decision on a newborn screening program for SCD in Germany. |
Databáze: | OpenAIRE |
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