TEthe European Reference Network in Rare Haematological Diseases with the endorsement of EuroBloodNet
the European Reference Network in Rare Haematological Diseases with the endorsement of EuroBloodNet
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Summary: Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) forSCDenables early initiation of preventive measures and has contributed to a reduction in childhood mortality fromSCD. Policies and methodologies forNBSvary in different countries, and this might have consequences for the quality of care and clinical outcomes forSCDacross Europe. A two‐day Pan‐European consensus conference was held in Berlin in April 2017 in order to appraise the current status ofNBSforSCDand to develop consensus‐based statements on indications and methodology forNBSforSCDin Europe. More than 50SCDexperts 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 ofNBSprogrammes in European countries where they do not yet exist, and to review existing programmes.
The history of newborn screening (NBS) for sickle cell disease (SCD) in Europe goes back almost 40 years. However, most European countries have not established it to date. The European screening map is surprisingly heterogenous. The first countries to introduce sickle cell screening on a national scale were France and England. The French West Indies started to screen their newborns for SCD as early as 1983/84. To this day, all countries of the United Kingdom of Great Britain and Northern Ireland have added SCD as a target disease to their NBS programs. The Netherlands, Spain and Malta also have national programs. Belgium screens regionally in the Brussels and Liège regions, Ireland has been running a pilot for many years that has become quasi-official. However, the Belgian and Irish programs are not publicly funded. Italy and Germany have completed several pilot studies but are still in the preparatory phase of national NBS programs for SCD, although both countries have well-established concepts for metabolic and endocrine disorders. This article will give a brief overview of the situation in Europe and put a focus on the programs of the two pioneers of the continent, England and France.