Neonatal Screening for Sickle Cell Disease and other Hemoglobinopathies in "The Changing Europe"

Rolla, Roberta; Castagno, Matteo; Zaffaroni, Mauro; Grigollo, Barbara; Colombo, Silvia; Piccotti, Selena; Dellora, Carlo; Bona, Gianni; Bellomo, Giorgio

doi:10.7754/clin.lab.2014.140701

Cited by 8 publications

(7 citation statements)

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“…In Italy a national NBS program is not available and NBS programs are organized on a regional basis [ 8 ]. Haemoglobinopathies are included in the regional NBS program of only 1 out of the 20 regions [ 9 ], but some pilot programs have been conducted in the past years [ 10 , 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Martella

Viola

Azzena

et al. 2018

IJNS

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A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A1 percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.

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Section: Introductionmentioning

confidence: 99%

Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Martella

Viola

Azzena

et al. 2018

IJNS

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“…In Belgium, a regional screening programme has operated in Brussels and the surrounding areas since 1994 and in Liège and the surrounding areas since 2002 (Gulbis et al , ). Germany (Frommel et al , ; Lobitz et al , ; Grosse et al , ; Kunz et al , ), Ireland (Gibbons et al , ) and Italy (Ballardini et al , ; Rolla et al , ; Lodi et al , ; Martella et al , ), reported completed pilot studies. Some countries have reported a reduction in mortality and SCD‐related complications (Telfer et al , ; van der Plas et al , ; Le et al , ) and economic benefits for their health care systems (Okpala et al , ; Castilla‐Rodríguez et al , ; Streetly et al , ).…”

Section: Resultsmentioning

confidence: 99%

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

et al. 2018

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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) 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.

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“…Nevertheless, since the end of 2000, due to the increase of patients with SCD as a result of immigration, several scientific societies have started to raise the issue of NBS for SCD: the Italian Association of Pediatric Hematology Oncology (AIEOP) highly recommended NBS for SCD in its guidelines published in 2012 in Italian and 2013 in English [ 33 ] and in 2017 the AIEOP together with the Italian Society of Thalassemia and Hemoglobinopathies (SITE) issued a joint document for the recommendation of NBS for SCD in Italy ( ). These efforts have led to the development of six NBS pilot programs [ 34 , 35 , 36 , 37 , 38 , 39 ], three of which are currently active [ 35 , 38 , 39 ] and one is being scaled up [ 37 ]. Two programs are universal [ 37 , 39 ] and the remaining are targeted [ 35 ]; one is antenatal.…”

Section: Italymentioning

confidence: 99%

Newborn Screening for Sickle Cell Disease in Europe

Daniel

Élion

Allaf

et al. 2019

IJNS

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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.

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Neonatal Screening for Sickle Cell Disease and other Hemoglobinopathies in "The Changing Europe"

Cited by 8 publications

References 0 publications

Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Newborn Screening for Sickle Cell Disease in Europe

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