Recurrent bleeding tendency in a school-aged boy

TANG Xiao-Yan; XIAO Juan; WANG Wei; MA Jing-Ran

doi:10.7499/j.issn.1008-8830.2016.03.014

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Chinese Journal of Contemporary Pediatrics ›› 2016, Vol. 18 ›› Issue (3) : 259-262. DOI: 10.7499/j.issn.1008-8830.2016.03.014

CASE ANALYSIS

Recurrent bleeding tendency in a school-aged boy

TANG Xiao-Yan, XIAO Juan, WANG Wei, MA Jing-Ran

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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.

Key words

Bleeding disease / α1-antitrypsin / Pittsburgh mutation / Child

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TANG Xiao-Yan, XIAO Juan, WANG Wei, MA Jing-Ran. Recurrent bleeding tendency in a school-aged boy[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(3): 259-262 https://doi.org/10.7499/j.issn.1008-8830.2016.03.014

References

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