Newborn Bloodspot Screening for Sickle Cell Disease in England
Author Information
Author(s): Allison Streetly, R Latinovic, K Hall, J Henthorn
Primary Institution: NHS Sickle Cell and Thalassaemia Screening Programme, King’s College London School of Medicine
Hypothesis
The implementation of a universal newborn bloodspot screening program will improve the identification of sickle cell disease and other significant hemoglobinopathies in England.
Conclusion
The national implementation of newborn screening in England has significantly increased the identification of children with sickle cell disease.
Supporting Evidence
- Over 17,000 carriers of sickle cell disease were identified during the screening period.
- The birth prevalence of sickle cell disease in London was found to be five times higher than in other regions.
- Approximately 3-4 screen-positive cases could be missed each year due to underascertainment.
Takeaway
This study shows that screening all newborns for sickle cell disease helps find more babies with the condition, which can save lives.
Methodology
The study involved screening almost 1.2 million infants using high-performance liquid chromatography and isoelectric focusing for confirmation.
Limitations
Some cases of sickle cell disease may still be missed, particularly in certain ethnic groups.
Participant Demographics
The study included newborns from various ethnic backgrounds across England.
Digital Object Identifier (DOI)
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