Abstract The study reports a boy with alpha1-antitrypsin Pittsburgh mutation. The boy was admitted into the hospital because of recurrent joint hematoma. The laboratory examinations revealed that prothrombin time and activated partial thromboplastin time were prolonged and cannot be corrected by 1:1 fresh plasma. The inhibitor of factor VIII, anticardiolipin antibody and lupus anticoagulant were all negative. Platelet aggregation test indicated the existence of the inhibitor of thrombin. Alpha1-antitrypsin Pittsburgh mutation was confirmed by genomic sequencing. The clinical manifestations, diagnosis and treatment of this disorder are discussed in this paper.
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