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Neonatal screening for sickle cell disease in France
J Bardakdjian-Michau1, M Bahuau, D Hurtrel
1Service de Biochimie et de Génétique, Unité Fonctionnelle de Génétique, Centre Hospitalier Universitaire Henri-Mondor (AP-HP), Créteil, France. josiane.michau@hmn.aphp.fr
Insights
Neonatal screening for sickle cell disease (SCD) in France identifies most at-risk newborns, with successful follow-up despite challenges. The study addresses the potential for universal screening for this genetic disease.
Area of Science:
- Genetics
- Public Health
- Neonatal Care
Background:
- Sickle cell disease (SCD) screening in France began in 1985 in Guadeloupe and expanded to mainland France in 1996.
- Since 2000, national screening targets newborns identified as
- at risk
- based on ethnic origin, driven by population changes.
- The study addresses the increasing prevalence of SCD in France due to immigration.
Purpose of the Study:
- To evaluate the effectiveness of the current neonatal screening program for sickle cell disease (SCD) in France.
- To assess the rate of missed cases and the success of follow-up for newborns diagnosed with SCD.
- To consider the implications of SCD birth prevalence for future universal screening policies.
Main Methods:
- Neonatal screening utilizes a dry blood sample from a heel stick.
- Isoelectric focusing serves as the primary analysis method.
- High-performance liquid chromatography or acid agar electrophoresis confirms variant hemoglobins identified by isoelectric focusing.
Main Results:
- In 2007, 28.45% of all newborns in mainland France underwent SCD screening.
- From 1996 to the study period, 3,890 newborns were diagnosed with SCD and enrolled in follow-up care.
- The current screening strategy appears to infrequently miss affected infants.
Conclusions:
- The current at-risk based neonatal screening for SCD in France is largely successful in identifying affected infants.
- Follow-up care for newborns with SCD is effective, despite inherent sociological challenges within the at-risk population.
- The study highlights the ongoing discussion regarding universal newborn screening for SCD in France due to its birth prevalence.
Background:
As a result of population growth in African-Caribbean regions of overseas France, and now immigration essentially from North and sub-Saharan Africa to mainland France, neonatal screening for sickle cell disease (SCD) has been performed in France since 1985 in Guadalupe and dependencies, as a universal test. After several pilot studies, screening was gradually extended to mainland France in 1996. Since 2000, the test has been performed at national level for all newborns defined as being "at risk" for SCD based on ethnic origin.
Methods:
A dry blood sample is obtained by heel stick and analysed by isoelectric focusing as a first-line method, followed by either high-performance liquid chromatography or acid agar electrophoresis for confirmation, whenever a variant haemoglobin is observed on isoelectric focusing.
Results:
In 2007, 28.45% of all newborns in mainland France were screened for SCD. Since 1996, a total of 3,890 newborns have been found to have SCD, and they have been followed up by reference paediatricians.
Conclusion:
Although screening for SCD at birth in France is not universal, it appears that missed babies are relatively infrequent. Despite obvious sociological problems inherent to the at-risk population, the follow-up of SCD babies is rather successful. Due to the birth prevalence of SCD in France, especially in comparison with other common genetic diseases, screening all newborns regardless of ethnic origin is an issue that is being addressed.
