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Neonatal screening for sickle cell disease in France.
- Source :
-
Journal of clinical pathology [J Clin Pathol] 2009 Jan; Vol. 62 (1), pp. 31-3. - Publication Year :
- 2009
-
Abstract
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Anemia, Sickle Cell epidemiology
Blood Specimen Collection methods
Chromatography, High Pressure Liquid
Electrophoresis, Agar Gel
France epidemiology
Hemoglobinopathies diagnosis
Hemoglobinopathies epidemiology
Humans
Infant, Newborn
Isoelectric Focusing
Anemia, Sickle Cell diagnosis
Neonatal Screening methods
Subjects
Details
- Language :
- English
- ISSN :
- 1472-4146
- Volume :
- 62
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of clinical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 19103855
- Full Text :
- https://doi.org/10.1136/jcp.2008.058867