Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)

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  • SEKIYA Akiko
    Department of Clinical Laboratory Science, Kanazawa University Graduate School
  • MORISHITA Eriko
    Department of Clinical Laboratory Science, Kanazawa University Graduate School Department of Hematology, Kanazawa University Hospital
  • MARUYAMA Keiko
    Department of Clinical Laboratory Science, Kanazawa University Graduate School
  • ASAKURA Hidesaku
    Department of Hematology, Kanazawa University Hospital
  • NAKAO Shinji
    Department of Hematology, Kanazawa University Hospital
  • OHTAKE Shigeki
    Department of Clinical Laboratory Science, Kanazawa University Graduate School Department of Hematology, Kanazawa University Hospital

Bibliographic Information

Other Title
  • ウサギ脳由来組織トロンボプラスチンを用いた第VII因子活性測定で著しい低値を示した凝固第VII因子異常症(FVII Padua)
  • 症例報告 ウサギ脳由来組織トロンボプラスチンを用いた第Ⅶ因子活性測定で著しい低値を示した凝固第Ⅶ因子異常症(FⅦ Padua)
  • ショウレイ ホウコク ウサギ ノウ ユライ ソシキ トロンボプラスチン オ モチイタ ダイ Ⅶ インシ カッセイ ソクテイ デ イチジルシイ テイチ オ シメシタ ギョウコ ダイ Ⅶ インシ イジョウショウ(F Ⅶ Padua)

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Description

Congenital factor VII (FVII) deficiency is a bleeding disorder that requires optimal hemostatic management for each case due to its wide variety of bleeding symptoms. We experienced a patient with inherited FVII deficiency who demonstrated different FVII activities depending on tissue thromboplastins used for assays. An 82-year-old woman without any episodes of abnormal bleeding was found to have different FVII activities of 1.4% and 32% when assayed using thromboplastins from rabbit brain and human placenta, respectively. DNA sequencing analysis revealed a homozygous missense mutation of G10828A(FVII Padua) that caused an amino acid substitution of Arg304 to Gln(R304Q). Carriers of 304Q alleles are usually clinically asymptomatic and do not require FVII replacement therapies even in cases of homozygotes. In case a prolonged prothrombin time or reduced FVII activity is detected, re-examination using thromboplastins of other sources can be helpful for preliminary diagnosis of R304Q, in order to prevent unnecessary FVII replacement therapies.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 53 (3), 357-360, 2012

    The Japanese Society of Hematology

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