Article
A case of factor XI deficiency caused by compound heterozygous F11 gene mutation.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2009
Wang Jing, Wang Xuefeng, Dai Jing, Ding Qiulan, Fu Qihua, Wang Hongli, Shen Lisong, Li Dao
Abstract excerpt
Inherited factor XI (FXI) deficiency is a rare autosomal recessive bleeding disorder in most populations except for Ashkenazi Jews. In this report, a 25-year-old Chinese female FXI deficiency case has been studied. Routine clotting tests showed significantly prolonged activated partial thromboplastin time (69.5 s, control 35 +/- 10 s) while prothrombin time (12.3 s, control 13 +/- 3 s)was normal. FXI:C and FXI:Ag...
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