Neonatal screening for sickle cell disease in France
| Autor: | J, Bardakdjian-Michau, M, Bahuau, D, Hurtrel, C, Godart, J, Riou, M, Mathis, M, Goossens, C, Badens, R, Ducrocq, J, Elion, J M, Perini |
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| Rok vydání: | 2008 |
| Předmět: |
Pediatrics
medicine.medical_specialty Anemia Population Disease Ethnic origin Anemia Sickle Cell Pathology and Forensic Medicine Heel stick Neonatal Screening medicine Humans National level education Chromatography High Pressure Liquid Electrophoresis Agar Gel education.field_of_study Blood Specimen Collection business.industry Infant Newborn General Medicine medicine.disease Sickle cell anemia Hemoglobinopathies Hemoglobinopathy France Isoelectric Focusing business |
| Zdroj: | Journal of clinical pathology. 62(1) |
| ISSN: | 1472-4146 |
| Popis: | 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 3890 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. |
| Databáze: | OpenAIRE |
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