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Annals of Hematology

, Volume 95, Issue 3, pp 541–542 | Cite as

The first case of antithrombin-resistant prothrombin Belgrade mutation in Japanese

  • Mayuko KishimotoEmail author
  • Nobuaki Suzuki
  • Moe Murata
  • Mika Ogawa
  • Takeshi Kanematsu
  • Akira Takagi
  • Hitoshi Kiyoi
  • Tetsuhito Kojima
  • Tadashi Matsushita
Letter to the Editor

Dear Editor,

Antithrombin resistance (ATR) is a rare and novel hereditary risk factor of thrombophilia caused by prothrombin mutation. Prothrombin Yukuhashi mutation (c.1787G>T, p.Arg596Leu) found in Japanese thrombophilia pedigree resulted in mutant prothrombin with reduced clotting activity but resistant to inactivation by antithrombin [1, 2, 3]. Another variant, prothrombin Belgrade mutation (c.1787G>A, p.Arg596Gln) found in Serbia and India is also related to thrombophilia with the same mechanism [4, 5]. Here, we report the first Japanese family with ATR caused by prothrombin Belgrade mutation.

The proband was a 22-year-old Japanese woman who had the first episode of DVT at the age of 15 years, followed by anticoagulant therapy with warfarin. Eight individuals of her maternal family members had one or more episodes of DVT (Fig.  1a). Interestingly, individuals in the third generation of this pedigree including this patient tended to have DVT in earlier age than those in the first...

Keywords

Thrombin Antithrombin Anticoagulant Therapy Thrombophilia Antithrombin Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Compliance with ethical standards

The protocol was performed according to the Declaration of Helsinki and was approved by the ethics committees of Nagoya University and Nagoya Medical Center.

Conflict of interest

The authors declare that they have no competing interests.

Informed consent

Informed consent was obtained from the patient and two family members

References

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Mayuko Kishimoto
    • 1
    Email author
  • Nobuaki Suzuki
    • 2
  • Moe Murata
    • 3
  • Mika Ogawa
    • 4
  • Takeshi Kanematsu
    • 4
  • Akira Takagi
    • 3
  • Hitoshi Kiyoi
    • 4
  • Tetsuhito Kojima
    • 3
  • Tadashi Matsushita
    • 2
  1. 1.Department of Clinical LaboratoryNagoya University HospitalNagoyaJapan
  2. 2.Department of Transfusion MedicineNagoya University HospitalNagoyaJapan
  3. 3.Department of Pathophysiological Laboratory SciencesNagoya University Graduate School of MedicineNagoyaJapan
  4. 4.Department of Hematology and OncologyNagoya University Graduate School of MedicineNagoyaJapan

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