Development of exogenous FVIII-specific inhibitor in a mild haemophilia patient with Glu272Lys mutation.
Development of exogenous FVIII-specific inhibitor in a mild haemophilia patient with Glu272Lys mutation.
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在患有 Glu272Lys 突变的轻度血友病患者中开发外源性 FVIII 特异性抑制剂。
DOI：
10.1111/hae.12363
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发表时间：
2014
期刊：
影响因子：
3.9
通讯作者：
Yasukawa M.
中科院分区：
文献类型：
--
作者：
Yamanouchi J;Hato T;Niiya T;Sato Y;Onishi S;Yasukawa M.
本文介绍了一个病例研究的73岁男子谁被诊断为轻度血友病A时，他是一个青少年后，他有一个困难的止血创伤。患者在70岁之前未发生需要FVIII替代治疗的出血事件。检查了导致轻度血友病的FVIII基因突变。该研究表明，一名携带FVIII Glu272Lys突变的轻度血友病患者产生了一种抑制剂。
The article presents a case study of a 73-year old man who was diagnosed with mild haemophilia A when he was a teenager after he had a difficulty in haemostasis following traumatic injury. The patient had not experiened bleeding episode requring FVIII replacement therapy until he turned 70. He was examined for mutation of FVIII gene responsible for his mild haemophilia. The study reveals that a patient with mild haemophilia, who carried the Glu272Lys mutation of FVIII, developed an inhibitor.