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Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by

Allison Streetly1, Radoslav Latinovic, Joan Henthorn

  • 1NHS Sickle Cell and Thalassaemia Screening Programme, King's College London School of Medicine, Division of Health and Social Care Research, London, UK. allison.streetly@kcl.ac.uk

Journal of Clinical Pathology
|July 2, 2010
PubMed

Insights

Newborn screening in England identified sickle cell disease (SCD) at a prevalence of 1:2000, with significant ethnic and geographic variations. Early detection through this national program aims to reduce complications and deaths in at-risk infants.

Area of Science:

  • Public Health
  • Genetics
  • Neonatal Screening

Background:

  • Sickle cell disease (SCD) is a significant inherited blood disorder.
  • Early detection and intervention are crucial for minimizing mortality and morbidity.
  • A national newborn screening program was implemented to address these needs.

Purpose of the Study:

  • To identify infants at risk of sickle cell disease through universal newborn screening.
  • To establish the prevalence and distribution of SCD and related conditions in newborns across England.
  • To inform service planning and public health strategies.

Main Methods:

  • Universal newborn screening for sickle cell disease was conducted in England from September 2003 to July 2006.
  • Dried bloodspot cards were utilized across 13 newborn laboratories.
  • Screening covered sickle cell anaemia (Hb SS), Hb SC disease, Hb S/beta thalassaemia, Hb S/D(Punjab), and Hb S/O(Arab).

Main Results:

  • The overall prevalence of screen-positive results was 1:2000.
  • A 25-fold variation in prevalence was observed across geographical areas.
  • African infants accounted for 61% of screen-positive results, with carrier rates up to 1:7 in this group, compared to 1:540 in 'White British' infants.

Conclusions:

  • The study provides crucial data on the frequency and distribution of sickle cell disease and carrier states in England.
  • Findings highlight significant ethnic and geographic disparities in disease prevalence.
  • Results can guide the refinement of genetic counseling, targeted services, and public health information campaigns.
Abstract

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