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Haemoglobin J Rovigo 53 alpha (E-2) aspartic acid alanin

J T Araujo, D Plowman, R A Araujo

    Revista Brasileira De Pesquisas Medicas E Biologicas
    |April 1, 1980
    PubMed
    Summary
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    This study details a family case of Hb J Rovigo interacting with beta thalassemia. Amino acid analysis identified a specific alpha chain variant, contributing to the observed hemoglobin percentages.

    Area of Science:

    • Hematology
    • Genetics
    • Molecular Biology

    Background:

    • Beta-thalassemia is a significant inherited blood disorder.
    • Hemoglobin variants can influence the clinical presentation of thalassemia.
    • Hb J Rovigo is a rare hemoglobin variant.

    Purpose of the Study:

    • To characterize a family case involving Hb J Rovigo and beta thalassemia.
    • To identify the specific molecular basis of the observed hemoglobin interaction.

    Main Methods:

    • Amino acid analysis was performed to identify the hemoglobin variant.
    • Hemoglobin levels were quantified.

    Main Results:

    • The identified hemoglobin variant was Hb J Rovigo, an alpha 53 (E2) Alanine-Aspartic acid chain variant.

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  • The percentage of this abnormal hemoglobin ranged from 22.7% to 30.5% in the affected family members.

    • Conclusions:

    • Hb J Rovigo can interact with beta thalassemia, leading to specific hematological findings.
    • Molecular characterization is crucial for understanding complex hemoglobinopathies.