Girolami A, Luzzatto G, Scattolo N, Zanolli F A
Blut. 1983 Jul;47(1):53-7. doi: 10.1007/BF00321050.
A new family with classical factor X deficiency is described. The proposita is a 6 year old girl who presented with occasional epistaxis and a hematoma after an intramuscular injection. The main laboratory features consisted in a prolongation of partial thromboplastin, prothrombin and Stypven clotting times corrected by the addition of normal serum. Factor X activity varied between 3 and 6%. Factor X amydolytic activity was 15% of normal. Electroimmunoassay failed to show the presence of factor X antigen. No inhibitor was found in the proposita plasma. Parents and other family members showed intermediate levels of factor X activity and antigen and were considered to be heterozygotes. No consanguineity was found in the family.
本文描述了一个新的患有经典型因子X缺乏症的家族。先证者是一名6岁女孩,她偶尔出现鼻出血,并且在肌肉注射后出现血肿。主要实验室检查特征包括部分凝血活酶时间、凝血酶原时间和蝰蛇毒凝血时间延长,加入正常血清后可纠正。因子X活性在3%至6%之间。因子X的酰胺水解活性为正常的15%。免疫电泳分析未显示因子X抗原的存在。在先证者血浆中未发现抑制剂。父母及其他家庭成员的因子X活性和抗原水平处于中间值,被认为是杂合子。该家族中未发现近亲结婚情况。