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Related Experiment Videos

Newborn screening for sickle cell disease: effect on mortality.

E Vichinsky1, D Hurst, A Earles

  • 1Department of Hematology/Oncology, Children's Hospital, Oakland, CA 94609.

Pediatrics
|June 1, 1988
PubMed
Summary

Newborn screening for sickle cell disease (SCD) significantly reduces mortality. Early diagnosis and treatment in newborns with SCD lead to better long-term outcomes compared to later diagnoses.

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Area of Science:

  • Medical Genetics
  • Pediatrics
  • Public Health

Background:

  • Newborn screening for sickle cell disease (SCD) is recommended to decrease patient mortality.
  • The effectiveness of newborn screening for SCD has not been reliably measured.
  • Hemoglobinopathies are the most prevalent congenital disease compared to other newborn screening programs.

Purpose of the Study:

  • To summarize 10 years of newborn screening experience for hemoglobinopathies.
  • To determine the effectiveness of early patient enrollment in a comprehensive treatment program for SCD.
  • To report the long-term morbidity and mortality of infants diagnosed with SCD through newborn screening.

Main Methods:

  • Screened 84,663 newborns between 1975 and 1985 for hemoglobinopathies.

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  • Analyzed data on Bart's hemoglobin, hemoglobin AS, hemoglobin AC, and SCD.
  • Followed 81 newborns with SCD diagnosed in the newborn period for 7.2 years.
  • Compared outcomes with 64 SCD patients diagnosed after 3 months of age.

    • Main Results:

    • Sickle cell disease occurred in 1:951 births.
    • Newborn screening identified 81 infants with SCD.
    • Patients diagnosed at birth experienced 513 hospitalizations, 13 sepsis episodes, and 10 acute sequestration crises.
    • The mortality rate for SCD diagnosed at birth was 1.8%.
    • Patients diagnosed after 3 months had a higher mortality rate (5 deaths in 64 patients).

    Conclusions:

    • Newborn screening for SCD is effective in identifying affected infants.
    • Early diagnosis and enrollment in comprehensive treatment programs improve long-term outcomes for SCD patients.
    • Hemoglobinopathies represent a significant public health burden.