Maak B
Childrens Hospital, University of Jena, GDR.
Folia Haematol Int Mag Klin Morphol Blutforsch. 1988;115(4):519-22.
A qualitative abnormality of fibrinogen was found in a boy aged 3 years and 6 months. It was recognized by prolonged prothrombin-, thrombin- and reptilase clotting times. There was also a difference between the results of different fibrinogen assays. The same constellation was identified in additional 7 members of the family belonging to 3 generations. No bleeding or thrombotic symptoms exist. The mode of inheritance of the fibrinogen variant (fibrinogen Jena) seems to be autosomal-dominant.
在一名3岁6个月大的男孩身上发现了纤维蛋白原的定性异常。这是通过延长凝血酶原、凝血酶和蛇毒凝血酶的凝血时间而识别出来的。不同纤维蛋白原检测结果之间也存在差异。在属于3代人的该家族另外7名成员中也发现了相同情况。不存在出血或血栓形成症状。纤维蛋白原变体(耶拿纤维蛋白原)的遗传模式似乎是常染色体显性遗传。