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Related Experiment Video

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A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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Sickle cell disease: time for a targeted neonatal screening programme.

C Gibbons, R Geoghegan, H Conroy

    Irish Medical Journal
    |March 26, 2015
    PubMed
    Summary

    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.

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    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.