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血友病 A 和先天性低纤维蛋白原血症:同一家庭中的罕见关联。

Hemophilia A and congenital hypofibrinogenemia: a rare association in same family.

机构信息

Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

出版信息

Indian J Pediatr. 2010 Feb;77(2):206-7. doi: 10.1007/s12098-009-0267-y.

Abstract

Hemophilia A is the commonest inherited coagulation defect in human beings, whereas congenital hypofibrinogenemia is a much rarer disease. Occurrence of these two inherited diseases in the same family has not been reported so far. Younger sibling of a known case of Hemophilia A presented with recurrent, spontaneously occurring echymotic spots having prolonged PT, APTT, TT and very low absolute fibrinogen level with normal factor VIII level ultimately diagnosed as a case of congenital hypofibrinogenemia.

摘要

血友病 A 是人类最常见的遗传性凝血缺陷,而先天性低纤维蛋白原血症则是一种罕见得多的疾病。这两种遗传性疾病在同一家庭中同时发生的情况尚未有报道。一名已知血友病 A 病例的弟弟出现了反复发作的自发性瘀斑,凝血酶原时间(PT)、活化部分凝血活酶时间(APTT)、凝血酶时间(TT)延长,绝对纤维蛋白原水平极低,而第八因子水平正常,最终被诊断为先天性低纤维蛋白原血症。

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