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Updated: Apr 26, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Thalassemia syndrome.

Abdulaziz A Sherif, Amha G/Medhin, Fisihatsion Tadesse

    Ethiopian Medical Journal
    |July 30, 2014
    PubMed
    Summary

    A 16-year-old female was diagnosed with thalassemia syndrome. Diagnosis was confirmed using clinical presentation, blood counts, morphology, and bone marrow examination.

    Area of Science:

    • Hematology
    • Genetics

    Background:

    • Thalassemia syndromes are inherited blood disorders.
    • Early diagnosis is crucial for effective management.

    Observation:

    • A 16-year-old female presented with symptoms suggestive of thalassemia.
    • Diagnostic workup included clinical assessment, complete blood count, peripheral blood smear analysis, and bone marrow examination.

    Findings:

    • The patient was diagnosed with thalassemia syndrome.
    • Diagnostic findings were consistent across clinical, hematological, and morphological evaluations.

    Implications:

    • This case highlights the importance of comprehensive diagnostic approaches for thalassemia.
    • Accurate diagnosis facilitates timely intervention and improved patient outcomes.

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