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

Kishimoto, Mayuko; Suzuki, Nobuaki; Murata, Moe; Ogawa, Morimasa; Kanematsu, Takeshi; Takagi, Akira; Kiyoi, Hitoshi; Kojima, Tetsuhito; Matsushita, Tadashi

doi:10.1007/s00277-015-2533-6

Cited by 28 publications

(28 citation statements)

References 6 publications

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“…In conclusion, prothrombin Belgrade seems to be a rare prothrombotic condition, but it has been found so far in Serbian, Indian and Japanese populations . It is well known that the risk of thrombosis in families with inherited thrombophilia depends highly on the clinical phenotype of the proband .…”

Section: Discussionmentioning

confidence: 87%

“…This mutation affects the same Arg596 position, but results in a different amino acid substitution, p.Arg596Gln (prothrombin Belgrade), and likewise leads to antithrombin resistance [3]. The prothrombin Belgrade mutation has been detected as well in one Indian and one Japanese thrombophilic family [4,5]. Most recently, prothrombin Padua 2 (F2 c.1786C>T, p.Arg596Trp), also characterized by a mutation at the Arg596 position and the presence of antithrombin resistance, has been described [6].…”

Section: Introductionmentioning

confidence: 99%

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Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism

Miljić

Gvozdenov

Takagi

et al. 2017

Journal of Thrombosis and Haemostasis

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Background The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. Objectives We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation. Patients and methods Nineteen family members were investigated, among whom 10 were carriers of the c.1787G>A mutation. In all subjects the clinical phenotype was determined and laboratory investigations of hemostatic parameters were performed. Results Six out of the 10 mutation carriers developed thromboembolic events, mainly deep venous and mesenteric vein thrombosis. The median age of the first thrombotic event was 26.5 (12-41) years, whereas the incidence rate of first thrombosis was 2.2% per year. In all mutation carriers prothrombin activity was significantly decreased in comparison with non-carriers, clearly distinguishing each group. However, the presence of the mutation did not affect the prothrombin antigen level in plasma. The endogenous thrombin potential was significantly increased in all carriers in comparison with non-carriers, indicating the presence of blood hypercoagulability. Interestingly, levels of D-dimer and the F1+2 fragment were similar in both groups. Conclusions Although rare, the prothrombin Belgrade mutation represents strong thrombophilia with early onset of thrombosis in the investigated family. According to our results, decreased prothrombin activity may be a simple screening test for detection of this mutation in thrombotic patients.

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Section: Discussionmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism

Miljić

Gvozdenov

Takagi

et al. 2017

Journal of Thrombosis and Haemostasis

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“…Following the report on prothrombin Yukuhashi, prothrombin Belgrade ( F2 c.1787G>A, p.Arg596Gln) and prothrombin Padua 2 ( F2 c.1786C>T, p.Arg596Trp) were also reported as an antithrombin‐resistant prothrombin. Currently, patients with the antithrombin‐resistant prothrombin mutation are found in seven unrelated families worldwide (prothrombin Yukuhashi: one Japanese family; prothrombin Belgrade: two in Serbia, one in India, and one in Japan; and prothrombin Padua 2: two Italian families).…”

Section: Introductionmentioning

confidence: 99%

Optimisation of antithrombin resistance assay as a practical clinical laboratory test: Development of prothrombin activator using factors Xa/Va and automation of assay

Tamura

Suga

Tanamura

et al. 2018

Int J Lab Hematology

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“…This assumption was demonstrated wrong in 2012 when a family with dysprothrombinemia with venous thrombosis was reported in Japan [6]. A few similar families were reported during the following years in Serbia, India, Italy [7][8][9][10]. All these patients had a mutation of amino acid Arg596.…”

Section: Introductionmentioning

confidence: 99%

Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed

et al. 2017

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

Cited by 28 publications

References 6 publications

Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism

Clinical and biochemical characterization of the prothrombin Belgrade mutation in a large Serbian pedigree: new insights into the antithrombin resistance mechanism

Optimisation of antithrombin resistance assay as a practical clinical laboratory test: Development of prothrombin activator using factors Xa/Va and automation of assay

Congenital prothrombin defects: they are not only associated with bleeding but also with thrombosis: a new classification is needed

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