一个遗传性异常纤维蛋白原血症家系表型分析

目的对一个遗传性异常纤维蛋白原血症家系进行表型分析。方法先后采集该家系3代共5人静脉血，用全自动血凝仪检测凝血酶原时间（PT）、活化部分凝血酶原时间（APTT）、凝血酶时间（TT）、纤维蛋白（原）降解产物（FDP）、D-二聚体（D-Dimer）和抗凝血酶Ⅲ活性（AT—Ⅲ），分别使用Clauss法和免疫比浊法对纤维蛋白原的活性和抗原性进行检测。结果先证者胛和APTT正常，TT明显延长，纤维蛋白原活性明显下降，抗原性在正常范围，其母亲的表型检测结果与之相同。家系其余成员检测结果均在正常范围。结论该遗传性异常纤维蛋白原血症家系表现为低纤维蛋白原血症，无出血或血栓。

A family constellation phenotype of hereditary dysfibrinogenemia

Objective To analyze the phenotype of a family with hereditary dysfibrinogenemia. Methods Venous blood samples of 5 persons from three generations of this family were collected. Automated blood coagulation analytical instrument was used to detect the prothrombin time （PT）, activated partial thromboplastin time （APTT）, thrombin time （TT）, fibrin degradation product （ FDP）, D - Dimer, and antithrombin Ⅲ （ AT - Ⅲ ）. The activity and antigenicity of fibrinogen were measured by the Clauss method and immunoturbidimetry, respectively. Results The PT and APTT of the proband were normal, but the TT was significantly prolonged. The fibrinogen activity decreased significantly, while the antigenicity was within the normal range. The mother＇s detection result of phenotype was the same as that of the proband. And the detection results of other family members were all within the normal range. Conclusion This hereditary dysfibrinogenemia family constellation has hypofibrinnogenemia and no haemorrhage or thrombus.