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 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.

HbS/β+ thalassemia: Really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype‐phenotype correlation

“…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.…”

“…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.…”

Improving Screening Programmes for Sickle Cell Disorders and Other Haemoglobinopathies in Europe: The Role of Patient Organisations

“…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].…”

P154 Improving the haemoglobinopathy screening programme for high-risk patients in a tertiary maternity hospital in dublin, a pilot quality improvement initiative

“…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 .…”