Saito M, Asakura H, Yoshida T, Ito K, Okafuji K, Yoshida T, Matsuda T
Department of Internal Medicine (III), Kanazawa University School of Medicine, Japan.
Br J Haematol. 1990 Mar;74(3):290-4. doi: 10.1111/j.1365-2141.1990.tb02585.x.
A 32-year-old woman with a bleeding tendency born of a consanguineous marriage, was found to have factor XIII subunit B deficiency. An abnormally low level of factor XIII activity was initially noticed and this finding led to further studies of the proband and her family. The notable features were: undetectable subunit B of factor XIII in the proband and her brother and reduced levels of subunit B, 34-52%, in her parents and children. The proband's brother had a markedly decreased level of subunit A protein. The level of factor XIII subunit A in platelets of the proband was normal. The half-life of subunit A determined from the disappearance curve of infused factor XIII subunit A concentrate was approximately 3 d and this is the shortest estimate of the half-life of factor XIII to date. From these results, it is suggested that subunit A is unstable in plasma deficient in subunit B and subunit B stabilizes the A protein. This is the first report of congenital deficiency of factor XIII subunit B and this disorder is thought to be inherited as an autosomal recessive trait.
一名32岁有出血倾向的女性，出身近亲结婚家庭，被发现患有凝血因子XIII亚基B缺乏症。最初发现凝血因子XIII活性水平异常低，这一发现促使对先证者及其家族进行进一步研究。显著特征如下：先证者及其兄弟体内检测不到凝血因子XIII的亚基B，其父母和子女体内亚基B水平降低，为34% - 52%。先证者的兄弟亚基A蛋白水平显著降低。先证者血小板中凝血因子XIII亚基A水平正常。根据注入的凝血因子XIII亚基A浓缩物的消失曲线确定的亚基A半衰期约为3天，这是迄今为止对凝血因子XIII半衰期的最短估计。从这些结果来看，提示亚基A在缺乏亚基B的血浆中不稳定，而亚基B可使A蛋白稳定。这是关于凝血因子XIII亚基B先天性缺乏症的首次报告，这种疾病被认为是常染色体隐性遗传。
