Girolami A, Coser P, Brunetti A, Prinoth O
Acta Haematol. 1975;53(2):118-27. doi: 10.1159/000208165.
A case of classical factor X deficiency is reported. The propositus is a 28-year-old male who presented easy bruising, epistaxis, hematomas, hematuria and occasional hemartrosis since early childhood. The severely prolonged prothrombin time was corrected by normal serum but not by adsorbed normal plasma. The abnormality was not corrected by the plasma of a patient with factor X deficiency, but by the plasma of patients with factor II or VII deficiencies. Partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal. The thromboelastogram showed a prolonged 'K' and 'r' together with a normal 'ma'. Factor X was very low (smaller than 1%). Platelet tests were normal. No factor X band or precipitates were seen on electroimmunoassay and on the cross-over electrophoresis. The non-consanguineous parents and several other members of the family were found to be heterozygotes.
报告了一例典型的因子X缺乏症病例。先证者为一名28岁男性,自幼年起即出现容易瘀伤、鼻出血、血肿、血尿及偶尔的关节积血。严重延长的凝血酶原时间可被正常血清纠正,但不能被吸附正常血浆纠正。该异常不能被因子X缺乏症患者的血浆纠正,但可被因子II或VII缺乏症患者的血浆纠正。部分凝血活酶时间、凝血酶原消耗及凝血活酶生成试验均异常。血栓弹力图显示“K”和“r”延长,“ma”正常。因子X水平极低(小于1%)。血小板检查正常。在免疫电泳和交叉电泳上均未见到因子X条带或沉淀。非近亲结婚的父母及家族中的其他几名成员被发现为杂合子。