Shih L Y, Hung I J
Scand J Haematol. 1983 Feb;30(2):97-102. doi: 10.1111/j.1600-0609.1983.tb01450.x.
Hereditary deficiency of factor VII is demonstrated in a Chinese family. The proposita was a 32-year-old female with bleeding diathesis consisting of spontaneous ecchymosis, menorrhagia and recurrent haemarthrosis. The prothrombin time was prolonged and the prothrombin and proconvertin test was 10% of normal. The activated partial thromboplastin time and the Stypven-cephalin clotting time were normal. The prolonged prothrombin time could be corrected by the addition of normal serum, but not by adsorbed normal or coumadin plasma. The factor VII level was 3.6% of normal. One of her brothers had bleeding symptoms and died at age 25, suggesting that factor VII deficiency might have been present. 13 of her family members had partial deficiency of factor VII with plasma levels ranging from 24 to 50%. These results suggest an autosomal recessive inheritance with a homozygous state occurring in the proposita and possibly in her brother, and a heterozygous state occurring in 13 of her family members. Our study marks an extensive survey of factor VII deficiency in an Oriental family.
一个中国家庭被证实存在遗传性凝血因子VII缺乏症。先证者是一名32岁女性，有出血倾向，包括自发性瘀斑、月经过多和反复关节积血。凝血酶原时间延长，凝血酶原和凝血激酶试验为正常的10%。活化部分凝血活酶时间和蝰蛇毒-脑磷脂凝结时间正常。延长的凝血酶原时间可通过加入正常血清来纠正，但不能通过吸附正常血浆或香豆素血浆来纠正。凝血因子VII水平为正常的3.6%。她的一个兄弟有出血症状，25岁时死亡，提示可能存在凝血因子VII缺乏症。她的13名家庭成员存在凝血因子VII部分缺乏，血浆水平在24%至50%之间。这些结果提示为常染色体隐性遗传，先证者及其兄弟可能为纯合子状态，13名家庭成员为杂合子状态。我们的研究标志着对一个东方家庭中凝血因子VII缺乏症进行了广泛调查。
