Čolović M D, Miljić P, Čolović R B, Janković G
Institute of Hematology, University Clinical Center of Serbia, 11000 Beograd, ul.Koste Todorovica br 2, Yugoslavia.
Haemophilia. 1996 Oct;2(4):250-2. doi: 10.1111/j.1365-2516.1996.tb00146.x.
Combined hereditary deficiency of factors XI (FXI) and XII (FXII) associated with the deficeincy of von Willebrand factor (vWF) in a single patient has not been reported so far in the literature. We report on two brothers of non-Jewish stock with defciency of FXI, FXII and vWF. The family studies disclosed FXI and FXII deficiency in the mother of propositi. A maternal niece had FXII deficiency. The father of propositi had vWF deficiency. This study suggests possible existence of a regulatory factor common to genes specifying FXI and FXII. Associated vWF deficiency is coincidental.
迄今文献中尚未报道过单一患者同时存在因子 XI(FXI)和因子 XII(FXII)联合遗传性缺乏以及血管性血友病因子(vWF)缺乏的情况。我们报告了两名非犹太血统的兄弟,他们存在 FXI、FXII 和 vWF 缺乏。家族研究显示,先证者的母亲存在 FXI 和 FXII 缺乏。一位外甥女存在 FXII 缺乏。先证者的父亲存在 vWF 缺乏。本研究提示,可能存在一个共同的调控因子,作用于编码 FXI 和 FXII 的基因。相关的 vWF 缺乏是巧合。