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1.
Ann Hematol ; 98(1): 47-53, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30132072

RESUMEN

Sickle cell disease (SCD) is a severe inherited blood disorder associated with significant morbidity and mortality in early childhood. Since simple interventions are available to prevent early fatal courses, SCD is a target condition of several national newborn screening (NBS) programs worldwide, but not in Germany. Traditionally, the diagnosis of SCD is made by high-performance liquid chromatography (HPLC), isoelectric focusing (IEF), or capillary electrophoresis (CE), but globally, most NBS programs in place are based on tandem mass spectrometry (MS/MS). Recently, several publications have shown that MS/MS is an appropriate screening technique to detect hemoglobin patterns suggestive of SCD in newborns, too. We have studied dried blood spot samples of 29,079 German newborns by both CE and MS/MS and observed a 100% congruence of test results. Seven babies had hemoglobin patterns characteristic of SCD (1:4154). Our study confirms that (a) the suitability of MS/MS as an adequate substitute for CE in NBS for SCD and (b) the high prevalence of SCD among German newborns. Our results support the thesis that German newborns should be screened for SCD by MS/MS.


Asunto(s)
Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/epidemiología , Hemoglobinas/metabolismo , Tamizaje Masivo , Espectrometría de Masas en Tándem , Femenino , Alemania/epidemiología , Humanos , Recién Nacido , Masculino , Prevalencia
2.
Br J Haematol ; 183(4): 648-660, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30334577

RESUMEN

Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.


Asunto(s)
Anemia de Células Falciformes/diagnóstico por imagen , Anemia de Células Falciformes/genética , Anemia de Células Falciformes/epidemiología , Conferencias de Consenso como Asunto , Europa (Continente)/epidemiología , Femenino , Humanos , Recién Nacido , Masculino , Tamizaje Neonatal , Guías de Práctica Clínica como Asunto
4.
Int J Neonatal Screen ; 4(4): 39, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33072959

RESUMEN

Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical progress of laboratory methods was achieved. This short review aims to summarize the current practice of classical laboratory methods for the detection of SCD and other hemoglobinopathies. This includes the newborn screening technologies of high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and isoelectric focusing (IEF).

5.
Eur J Hum Genet ; 22(8): 1051-3, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24398797

RESUMEN

Sickle cell disease (SCD) does not occur in the indigenous German population. However, with the increasing numbers of immigrants its prevalence is steadily rising. Nevertheless, robust epidemiological data is not available for Germany and, consequently, the German newborn screening (NBS) program does not include SCD. Between 1 September 2011 and 30 November 2012, an unselected cohort of 34,084 Berlin newborns was tested for SCD. The results of 14 newborns were consistent with SCD and 265 babies were identified as hemoglobin S (Hb S) carriers. These data indicate a 95% probability that the incidence of SCD in Berlin is at least 2.5/10,000.


Asunto(s)
Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/diagnóstico , Berlin/epidemiología , Cromatografía Líquida de Alta Presión/métodos , Estudios de Cohortes , Estudios Transversales , Hemoglobina Falciforme/química , Humanos , Incidencia , Recién Nacido , Tamizaje Neonatal , Proyectos Piloto , Vigilancia de la Población , Estudios Retrospectivos
6.
Biomed Res Int ; 2014: 695828, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25147811

RESUMEN

Sickle cell disease (SCD) does not occur in the indigenous German population, but with the increasing number of immigrants from countries at high risk for hemoglobinopathies, the question emerges whether or not a newborn screening program (NBS) for SCD disease should be initiated in Germany anyhow. We have recently shown that in Berlin, a city with a very large immigrant population, the incidence of SCD is considerable, but our findings are insufficient to make a decision for the country as a whole. In this paper we will show that a large body of epidemiological data can be generated in a relatively short period of time, with a very high degree of precision and at relatively little expense--a result that might motivate other working groups to start such a pilot project locally. We examined previously collected dried blood cards that were up to six months old, using high performance liquid chromatography (HPLC) as first method and capillary electrophoresis (CE) as second method. A single, part-time laboratory technician processed 38,220 samples in a period of 162 working days. The total costs per sample including all incidentals (as well as labor costs) were EUR 1.44.


Asunto(s)
Anemia de Células Falciformes/epidemiología , Estudios Transversales , Etnicidad , Alemania/epidemiología , Hemoglobinopatías/epidemiología , Humanos , Recién Nacido , Tamizaje Neonatal/métodos , Proyectos Piloto , Estudios Retrospectivos
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