Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients

We summarize causative genetic mutations for antithrombin (AT) deficiency and their clinical background in Japanese patients. A total of 19 mutations, including seven novel mutations, were identified. We also summarize clinical symptoms of thrombosis, age at onset, family history, and contributing f...

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Bibliographic Details
Published in:International journal of hematology 2017-03, Vol.105 (3), p.287-294
Main Authors: Sekiya, Akiko, Taniguchi, Fumina, Yamaguchi, Daisuke, Kamijima, Sayaka, Kaneko, Shonosuke, Katsu, Shiori, Hanamura, Miho, Takata, Mao, Nakano, Haruka, Asakura, Hidesaku, Ohtake, Shigeki, Morishita, Eriko
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Antithrombin Proteins - deficiency
Antithrombin Proteins - genetics
Asian Continental Ancestry Group
Female
Hematology
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation - physiology
Oncology
Original Article
Pregnancy
Pregnancy Complications, Cardiovascular - diagnosis
Risk Factors
Thrombophilia - complications
Thrombophilia - diagnosis
Thrombosis - etiology
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Summary:We summarize causative genetic mutations for antithrombin (AT) deficiency and their clinical background in Japanese patients. A total of 19 mutations, including seven novel mutations, were identified. We also summarize clinical symptoms of thrombosis, age at onset, family history, and contributing factors for thrombosis, and review the use of prophylactic anticoagulation in pregnant women with heterozygous type II heparin binding site defects (HBS) AT deficiency. The prevalence of thrombosis in probands with type I AT deficiency (88%) was double that observed in those with type II AT deficiency (50%). The prevalence of thrombotic episodes among family members was also higher for type I AT deficiency subjects (82%) than for those with type II AT deficiency (0%). The most common contributing factor for thrombosis among women with type I AT deficiency was pregnancy. Forty-five percent of women with type I AT deficiency developed thrombotic events before the 20th week of gestation. In contrast, women with type II (HBS) AT deficiency appear to be at a lower risk of thrombosis during pregnancy. In conclusion, thrombotic risk varies among different subtypes. Risk assessments based on genetic/clinical backgrounds may contribute to appropriate diagnosis, treatment, and prophylaxis for patients with AT deficiency.
ISSN:0925-5710
1865-3774
DOI:10.1007/s12185-016-2142-8