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Sickle cell disease: time for a targeted neonatal screening programme
Insights
Newborn screening for sickle cell disease (SCD) significantly reduces delayed diagnosis and treatment. Early screening in Ireland improved antibiotic commencement age and prevented acute crises in at-risk infants.
Area of Science:
- Paediatric Haematology
- Public Health Screening
- Genetic Disease Management
Background:
- Ireland has experienced a rise in paediatric sickle cell disease (SCD).
- Early referral rates to haemoglobinopathy services were low, with only 25% of children seen in their first year before 2005.
- A non-funded screening program was initiated to address these challenges.
Purpose of the Study:
- To evaluate the effectiveness of a non-funded newborn screening program for sickle cell disease (SCD) in Ireland.
- To assess the impact of screening on early diagnosis, treatment initiation, and clinical outcomes.
- To identify delays in referral and treatment and advocate for policy changes.
Main Methods:
- Retrospective review of children with SCD born in Ireland after 2005 referred to the haemoglobinopathy service.
- Data collection from medical charts and laboratory systems.
- Analysis of referral age, antibiotic commencement, and incidence of acute crises in screened versus unscreened groups.
Main Results:
- 77 children with SCD were identified.
- Median age at antibiotic commencement was significantly lower in the screened group (56 days) compared to the unscreened group (447 days; p < 0.0003).
- Screened infants had fewer referrals over 6 months old (21% vs. 81%) and a lower incidence of acute crises (3% vs. 27%).
Conclusions:
- Newborn screening for SCD is a highly effective intervention, drastically reducing delays in care and preventing severe complications.
- The study highlights significant delays in referral and treatment, underscoring the need for government-funded support and policy implementation.
- Universal screening in maternity units for newborns at risk of SCD is recommended as a cost-effective measure to prevent potentially fatal crises.
Abstract:
Ireland has seen a steady increase in paediatric sickle cell disease (SCD). In 2005, only 25% of children with SCD were referred to the haemoglobinopathy service in their first year. A non-funded screening programme was implemented. This review aimed to assess the impact screening has had. All children referred to the haemoglobinopathy service born in Ireland after 2005 were identified. Data was collected from the medical chart and laboratory system. Information was analysed using Microsoft Excel. 77 children with SCD were identified. The median age at antibiotic commencement in the screened group was 56 days compared with 447 days in the unscreened group, p = < 0.0003. 22 (28%) of infants were born in centre's that do not screen and 17 (81%) were over 6 months old at referral, compared with 14 (21%) in the screened group. 6 (27%) of those in the unscreened group presented in acute crisis compared with 2 (3%) in the screened population. The point prevalence of SCD in Ireland is 0.2% in children under 15 yr of African and Asian descent. We identified delays in referral and treatment, which reflect the lack of government funded support and policy. We suggest all maternity units commence screening for newborns at risk of SCD. It is a cost effective intervention with a number needed to screen of just 4 to prevent a potentially fatal crisis.
