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Related Experiment Video

Updated: Mar 23, 2026

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
08:13

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Published on: February 20, 2015

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[BLUE BABY, PINK FUTURE].

Michael Osovsky, Joanne Yacobovich, Lea Sirota

    Harefuah
    |March 26, 2016
    PubMed
    Summary

    A novel mutation in the gamma chain of hemoglobin causes neonatal cyanosis. This condition resolves with maturation, highlighting the need for early diagnosis to prevent unnecessary investigations.

    Area of Science:

    • Medical Genetics
    • Neonatology
    • Hematology

    Background:

    • Neonatal cyanosis is a common condition often linked to heart or lung issues.
    • Investigating neonatal cyanosis requires prompt and thorough evaluation.
    • Hemoglobin mutations can alter oxygen affinity, impacting oxygen transport.

    Observation:

    • A specific mutation, aspartic acid 102 to serine (asp 102 serine), was identified in the gamma chain of hemoglobin.
    • This mutation was associated with neonatal cyanosis in the affected infant.
    • The cyanosis observed in the infant resolved as the baby matured.

    Findings:

    • The asp 102 serine mutation in the gamma hemoglobin chain leads to decreased oxygen affinity.
    • This genetic alteration is a newly identified cause of neonatal cyanosis.

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  • The condition is transient, improving with infant development.

    • Implications:

    • Early diagnosis of this specific hemoglobin mutation is crucial.
    • Identifying the cause prevents extensive and unnecessary workups for other conditions.
    • Understanding such mutations aids in diagnosing and managing neonatal cyanosis effectively.