Antithrombin-p.Ala416Pro: The Second Reported Case in Japan

Toshio Shigekiyo; Etsuko Sekimoto; Hironobu Shibata; Shuji Ozaki; Atsushi Kurushima; Ken-ichi Aihara

doi:10.2169/internalmedicine.53.1087

CASE REPORTS

Antithrombin-p.Ala416Pro: The Second Reported Case in Japan

Toshio Shigekiyo, Etsuko Sekimoto, Hironobu Shibata, Shuji Ozaki, Atsushi Kurushima, Ken-ichi Aihara

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Keywords: antithrombin deficiency, type IIa antithrombin deficiency, antithrombin-p.Ala416Pro, antithrombin Charleville

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 5 Pages 477-481

DOI https://doi.org/10.2169/internalmedicine.53.1087

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Abstract

A 42-year-old man was referred to our department due to recurrent deep venous thrombosis. He, his father and his aunt had low antithrombin (AT) heparin cofactor activity and progressive AT activity levels with normal AT antigen levels. A single nucleotide substitution of G to C was found at nucleotide position c.1246 in exon 7 of the patient's AT gene, resulting in a p.Ala416Pro mutation of AT. The same mutation was identified in his father and aunt, but not his sister, who had a normal AT level. These results show that the AT-p.Ala416Pro mutation was responsible for type IIa AT deficiency in this family.

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