The first case of antithrombin-resistant prothrombin Belgrade mutation in Japanese
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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.
KeywordsThrombin Antithrombin Anticoagulant Therapy Thrombophilia Antithrombin Deficiency
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 was obtained from the patient and two family members
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