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Implementation of the newborn screening programme for sickle cell disease in England: results for 2003-2005
Allison Streetly1, Mary Clarke, Melanie Downing
1NHS Sickle Cell and Thalassaemia Screening Programme, Division of Health and Social Care Research, King's College London School of Medicine, 42 Weston Street, London, UK. allison.streetly@kcl.ac.uk
Insights
England
Area of Science:
- Public Health
- Genetics
- Newborn Screening
Background:
- Sickle cell disease (SCD) is a growing concern in Western Europe.
- England has implemented a national newborn screening program for SCD.
Purpose of the Study:
- To report early screening results from England's national newborn sickle cell disease program.
- To assess the prevalence of sickle cell disorders and carriers in newborns.
Main Methods:
- Newborns are screened at 5-8 days old using bloodspot tests.
- High-performance liquid chromatography (HPLC) and iso-electric focusing (IEF) are employed for analysis.
- Screening identifies sickle cell anaemia, Hb SC disease, Hb S/beta-thalassaemia, and other variants.
Main Results:
- Provisional data (2004-2005) indicated a screen-positive rate of 1:1500 and a carrier rate of 2.7%.
- Approximately 250 significant screen-positive results and 6,500 carriers were identified.
- National birth prevalence is estimated between 1:2000-1:2,500.
Conclusions:
- Sickle cell disorders are as common as cystic fibrosis in England.
- SCD prevalence is concentrated in urban areas like London.
- The English screening model offers valuable insights for other developed nations.
Objectives:
This paper reports early screening results from the newborn sickle cell disease screening programme recently implemented in England.
Setting:
England. Screening is offered at 5-8 days of age as part of the existing bloodspot test and offered to all babies irrespective of ethnicity.
Methods:
The laboratory methods recommended are high performance liquid chromatography (HPLC) and iso-electric focusing (IEF). Two methods of analysis must be applied to all screen positive results. The conditions screened for are:- Sickle cell anaemia (Hb SS), Hb SC disease, Hb S/beta-thalassaemia, Hb S/D(Punjab), Hb S/O(Arab), Hb S/HPFH. Carriers identified for the common haemoglobin variants are reported to parents and follow-up counselling is offered. A bespoke laboratory quality assurance programme has been established which has defined standards of satisfactory performance.
Results:
Provisional figures from the first seven months of screening (up to March 2004) 108,255 infants were screened gave a screen positive rate of 1:900 for these high prevalence areas and a carrier rate of 2.7%. Figures for 2004-2005 show about 250 significant screen positive results for sickle cell disorders and about 6,500 carriers were identified. The birth prevalence for screen positive results from 2004-05 is 1:1500. We estimate that when there is countrywide data, the national birth prevalence will be about 1:2000-1:2,500.
Conclusion:
The results from the national newborn sickle cell screening programme in England-show that the sickle cell disorders are as common as cystic fibrosis (CF) in England, although the distribution of cases is concentrated in London and other urban areas. The findings and approach to implementation adopted in England may be of interest to other Western European countries with increasing rates of sickle cell disease who are considering such programmes and also to other developed countries.