al-Adhadh A N
Department of Haematology, King Abdul Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia.
Clin Lab Haematol. 1988;10(3):307-14. doi: 10.1111/j.1365-2257.1988.tb00024.x.
A rare case of factor XI (PTA) deficiency was discovered in a Saudi family in the Riyadh area. Nine members of the family were studied. Two were found to have a severe PTA deficiency; levels of factor XI clotting activity were 0.01 i.u./ml and 0.02 i.u./ml respectively. Both plasmas were markedly deficient in factor XI antigen and appeared to be negative for cross-reactive material (CRM-). The parents were first cousins and both were found to have a minor PTA deficiency. Factor XI levels were: mother 0.048 i.u./ml and father 0.33 i.u./ml. Another sibling was found to have a FXI level of 0.47 i.u./ml. Menorrhagia and bleeding for 1 day after tooth extraction were the main bleeding manifestations found in one member with severe PTA deficiency. Clinically this member presented with iron deficiency anaemia. Other family members had no significant history of bleeding tendency. This is the first report of a Saudi Arabian family with PTA deficiency.
在利雅得地区的一个沙特家庭中发现了一例罕见的因子XI（PTA）缺乏症。对该家庭的九名成员进行了研究。发现两名成员患有严重的PTA缺乏症；因子XI凝血活性水平分别为0.01国际单位/毫升和0.02国际单位/毫升。两种血浆中的因子XI抗原均明显缺乏，且交叉反应物质（CRM-）检测呈阴性。父母是近亲，两人均被发现患有轻度PTA缺乏症。因子XI水平分别为：母亲0.048国际单位/毫升，父亲0.33国际单位/毫升。另一个兄弟姐妹的FXI水平为0.47国际单位/毫升。一名患有严重PTA缺乏症的家庭成员主要出血表现为月经过多和拔牙后出血1天。临床上该成员表现为缺铁性贫血。其他家庭成员无明显出血倾向病史。这是关于一个患有PTA缺乏症的沙特家庭的首次报告。
