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antithrombin III deficiency

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This condition is inherited in an autosomal dominant manner. The prevalence is thought to be 0.2-0.4% in the general population.

The genetic basis of antithrombin deficiency is heterogeneous:

  • there may be normal antigenic levels of the protein, in which case there is a functional defect in the antithrombin
  • reduced antigenic levels of antithrombin suggest a defect in the synthesis or stability of the protein

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