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Related Experiment Videos

Neonatal screening for sickle cell disease.

C M Lees1, S Davies, C Dezateux

  • 1Evidence Based Child Health Unit, Institute of Child Health, Royal Liverpool Children's Hospital, Eaton Rd, Liverpool, UK, L12 2AP. cmlees@liverpool.ac.uk

The Cochrane Database of Systematic Reviews
|May 5, 2000
PubMed
Summary

Neonatal screening for sickle cell disease lacks trial evidence. Early treatment, enabled by screening, shows benefits, suggesting screening

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Area of Science:

  • Medical screening
  • Genetic disorders
  • Public health

Background:

  • Sickle cell disease (SCD) is an inherited blood disorder with high incidence in malaria-endemic regions.
  • Early diagnosis and treatment of SCD can significantly reduce morbidity and mortality.
  • Neonatal screening offers a pathway for early detection before symptom onset.

Purpose of the Study:

  • To evaluate evidence on the effectiveness of neonatal screening for sickle cell disease compared to symptomatic diagnosis.
  • To assess whether screening reduces adverse outcomes in detected cases and avoids harm in the screened population.

Main Methods:

  • Searched Cochrane Cystic Fibrosis and Genetic Disorders Group trials register and contacted experts.
  • Included randomized or pseudorandomized trials comparing screening to clinical diagnosis.
  • Most recent search conducted in November 1999.

Main Results:

  • No randomized controlled trials (RCTs) of neonatal screening for sickle cell disease were identified.
  • The search yielded no empirical data from trials on the benefits or harms of screening.

Conclusions:

  • A significant lack of trial evidence exists for neonatal screening of sickle cell disease.
  • Non-trial literature and economic analyses suggest screening is appropriate.
  • Healthcare providers should consider existing evidence on early interventions like penicillin prophylaxis and vaccination when making screening decisions.

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