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Article

Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1

  • Authors:
    • Jerzy Jankun
    • Ewa Skrzypczak-Jankun
  • View Affiliations / Copyright

    Affiliations: Urology Research Center, Department of Urology, The University of Toledo - Health Science Campus, Toledo, OH 43614, USA. jerzy.jankun@utoledo.edu
  • Pages: 575-577
    |
    Published online on: July 1, 2010
       https://doi.org/10.3892/etm_00000090
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Abstract

In the present study, we present a 60-year-old woman of American Indian descent with a life-long history of bleeding diathesis. She had a history of recurrent and prolonged bleeding such as mild epistaxis, gingival bleeding and microscopic hematurias. She also experienced a severe bleeding event after surgery. The patient had a large family with a history of a tendency of bleeding, severe in some cases. Hemostatic screening studies revealed no abnormalities, which could explain the bleeding tendency. Clot formation of sodium-citrated blood was analyzed by thromboelastography, which suggested a low platelet count or plasminogen activator inhibitor-1 (PAI-1) deficiency. However, her platelet count was slightly elevated. Subsequent sequencing of the PAI-1 gene revealed a heterozygous Ala15Thr mutation in the signal peptide. This type of deficiency is related to dynamics of PAI-1 secretion rather than its low levels or activity. We concluded that the PAI-1 mutation was likely the etiology of the bleeding diathesis in this patient.
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Copy and paste a formatted citation
Spandidos Publications style
Jankun J and Skrzypczak-Jankun E: Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 . Exp Ther Med 1: 575-577, 2010.
APA
Jankun, J., & Skrzypczak-Jankun, E. (2010). Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 . Experimental and Therapeutic Medicine, 1, 575-577. https://doi.org/10.3892/etm_00000090
MLA
Jankun, J., Skrzypczak-Jankun, E."Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 ". Experimental and Therapeutic Medicine 1.4 (2010): 575-577.
Chicago
Jankun, J., Skrzypczak-Jankun, E."Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 ". Experimental and Therapeutic Medicine 1, no. 4 (2010): 575-577. https://doi.org/10.3892/etm_00000090
Copy and paste a formatted citation
x
Spandidos Publications style
Jankun J and Skrzypczak-Jankun E: Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 . Exp Ther Med 1: 575-577, 2010.
APA
Jankun, J., & Skrzypczak-Jankun, E. (2010). Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 . Experimental and Therapeutic Medicine, 1, 575-577. https://doi.org/10.3892/etm_00000090
MLA
Jankun, J., Skrzypczak-Jankun, E."Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 ". Experimental and Therapeutic Medicine 1.4 (2010): 575-577.
Chicago
Jankun, J., Skrzypczak-Jankun, E."Bleeding diathesis is associated with an A15T heterozygous mutation in exon 2 of the plasminogen activator inhibitor type 1 ". Experimental and Therapeutic Medicine 1, no. 4 (2010): 575-577. https://doi.org/10.3892/etm_00000090
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