Girolami A, Gastaldi G, Patrassi G, Galletti A
Acta Haematol. 1976;55(4):234-43. doi: 10.1159/000208020.
A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild. The main laboratory feature was a prolonged partial thromboplastin time which was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum, hemophilia A plasma or plasma of another patient with combined factor V and factor VIII deficiency. TGT was also clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was mildly defective. The prothrombin time was slightly prolonged. Facotr VIII was 12% and factor V 55% of normal. Factor-VIII-associated antigen was normal. The father and a sister of the propositus revealed mild factor V deficiency but normal factor VIII activity and antigen. The parents were not consanguineous. A tentative classification of combined deficiency of factors V and VIII in two groups is proposed. The hereditary transmission of the two types of deficiencies is discussed.
本文报告了一名患有联合因子V和因子VIII缺乏症的患者。出血表现较轻。主要实验室特征是部分凝血活酶时间延长，加入吸附正常血浆后可纠正，但加入正常血清、甲型血友病血浆或另一名联合因子V和因子VIII缺乏症患者的血浆后不能纠正。白陶土部分凝血活酶时间（TGT）也明显异常，加入吸附正常血浆后可纠正，但加入正常血清后不能纠正。凝血酶原消耗轻度缺陷。凝血酶原时间略有延长。因子VIII为正常的12%，因子V为正常的55%。因子VIII相关抗原正常。先证者的父亲和一个姐姐表现为轻度因子V缺乏，但因子VIII活性和抗原正常。父母非近亲结婚。提出了联合因子V和VIII缺乏症分为两组的初步分类。讨论了两种类型缺乏症的遗传传递。
