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与复发性血栓形成相关的先天性肝素辅因子II缺乏症。

Constitutional heparin co-factor II deficiency associated with recurrent thrombosis.

作者信息

Sie P, Dupouy D, Pichon J, Boneu B

出版信息

Lancet. 1985 Aug 24;2(8452):414-6. doi: 10.1016/s0140-6736(85)92737-0.

Abstract

The family of a 36-year-old man with recurrent deep venous thrombosis and heparin co-factor II (HC II) deficiency was investigated for this deficiency. The deficiency was inherited as an autosomal dominant trait. 4 members of the family had low HC II levels but only the proband had a history of thromboses; however, 2 of 4 affected were only 14 and 23 years old. The deficiency did not affect the anticoagulant action of heparin, with which the patient was treated.

摘要

对一名患有复发性深静脉血栓形成且缺乏肝素辅因子II(HC II)的36岁男性的家族进行了该缺陷的调查。该缺陷以常染色体显性性状遗传。家族中有4名成员HC II水平较低,但只有先证者有血栓形成病史;然而,4名受影响者中有2名分别只有14岁和23岁。该缺陷不影响用于治疗该患者的肝素的抗凝作用。

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