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Related Experiment Videos

Sickle cell anemia in the newborn.

T Hegyi, E S Delphin, A Bank

    Pediatrics
    |August 1, 1977
    PubMed
    Summary

    Homozygous sickle cell disease is rarely seen in newborns. This case highlights an infant with severe, early-onset sickle cell disease, emphasizing the need for further research into its causes.

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    Area of Science:

    • Pediatric Hematology
    • Neonatal Medicine
    • Genetic Blood Disorders

    Background:

    • Homozygous sickle cell disease (HbSS) typically presents later in infancy.
    • Neonatal presentation of HbSS is uncommon and often less severe.

    Observation:

    • A newborn infant presented with clinical signs of severe illness at birth.
    • The infant experienced multisystem involvement and died at 5 days of age.

    Findings:

    • Autopsy findings suggested a sickle cell crisis present in utero.
    • Laboratory tests confirmed homozygous sickle cell disease without elevated hemoglobin S levels.

    Implications:

    • This case underscores the variability in sickle cell disease presentation.
    • Further investigation is needed to understand the factors contributing to severe neonatal HbSS.