Voinnesson A, Salaün M
Sem Hop. 1979;55(33-34):1507-12.
This note studies fourteen members of the same family over three generations. Ten of them have biological dysfibrinogenaemia without haemorrhagic diathesis or thrombosis. The diagnostic is essentially based on the study of fibrin formation by thrombine time. On the other hand global coagulation tests are little or not at all disturbed and the rate of physiologically active fibrinogen is sometimes subnormal. The biological outline of the defect is superposable to the one of the majority of hereditary dysfibrinogenaemia cases actually published. The classical prevailing autosomal transmission is confirmed.
本报告研究了同一家庭三代中的14名成员。其中10人患有生物性异常纤维蛋白原血症,无出血素质或血栓形成。诊断主要基于凝血酶时间对纤维蛋白形成的研究。另一方面,整体凝血试验几乎没有或完全没有受到干扰,生理活性纤维蛋白原的比率有时低于正常水平。该缺陷的生物学概况与目前已发表的大多数遗传性异常纤维蛋白原血症病例的概况相符。经典的常染色体显性遗传得到了证实。