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Hereditary alpha 2-macroglobulin deficiency

D Bergqvist, I M Nilsson

    Scandinavian Journal of Haematology
    |November 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    This study identified a rare inherited deficiency in alpha 2M (alpha 2-macroglobulin) in a family. The condition, characterized by low alpha 2M levels, appears to be autosomal dominant and asymptomatic.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Hematology

    Background:

    • Alpha 2-macroglobulin (alpha 2M) is a key proteinase inhibitor.
    • Deficiencies in alpha 2M are rare and not well-characterized.

    Purpose of the Study:

    • To investigate a case of low alpha 2M levels identified during routine screening.
    • To determine the inheritance pattern and clinical significance of this deficiency.

    Main Methods:

    • Electroimmunoassay (Laurell method) was used for alpha 2M quantification.
    • Coagulation and fibrinolytic components were assessed.
    • Liver function tests were performed.

    Main Results:

    • A 37-year-old male presented with persistently low alpha 2M levels (25%).

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  • His mother and daughter also exhibited low alpha 2M, suggesting an inherited trait.
  • All other tested coagulation and fibrinolytic parameters, including alpha 2-antiplasmin, alpha 1-antitrypsin, and antithrombin III, were normal.
  • No clinical symptoms or signs of increased fibrinolysis were observed in affected individuals.

    • Conclusions:

    • The findings suggest an inherited autosomal dominant alpha 2M deficiency.
    • Affected family members are likely heterozygotes.
    • This genetic defect appears to be asymptomatic and represents the first reported family with alpha 2M deficiency.