2018
DOI: 10.1111/bjh.15600
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Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Abstract: Summary 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 Ber… Show more

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Cited by 110 publications
(99 citation statements)
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“…The frequency of different genetic variants is rapidly increasing in European countries due to the rising number of people migrating from different regions of the Mediterranean area (Africa, Balkan, Middle East). This resulted in the introduction of new genetic profiles in Europe, with consequent need for dedicated guidelines tailored to each specific country . HbS/β° thalassemia is characterized by the absence of HbA with a clinical presentation that resembles that of the homozygous SS sickle cell disease.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…The frequency of different genetic variants is rapidly increasing in European countries due to the rising number of people migrating from different regions of the Mediterranean area (Africa, Balkan, Middle East). This resulted in the introduction of new genetic profiles in Europe, with consequent need for dedicated guidelines tailored to each specific country . HbS/β° thalassemia is characterized by the absence of HbA with a clinical presentation that resembles that of the homozygous SS sickle cell disease.…”
Section: Introductionmentioning
confidence: 99%
“…This resulted in the introduction of new genetic profiles in Europe, with consequent need for dedicated guidelines tailored to each specific country. 2,3 HbS/β° thalassemia is characterized by the absence of HbA with a clinical presentation that resembles that of the homozygous SS sickle cell disease. By contrast, HbS/β+ thalassemia is clinically heterogeneous, with variable residual amounts of HbA depending on the underlying thalassemia mutation.…”
Section: Introductionmentioning
confidence: 99%
“…It has been noted that extension of the newborn screening is badly needed [3]. Recently, a consensus statement and recommendation for screening programmes has been produced [4].…”
Section: Introductionmentioning
confidence: 99%
“…Introduction A more coordinated haemoglobinopathy screening is desired across European countries 1 . A non-funded pilot screening programme was implemented in six Irish maternity units in 2005 2 .…”
mentioning
confidence: 99%