Mophid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Clin Appl Thromb Hemost. 2012 Jan-Feb;18(1):100-3. doi: 10.1177/1076029611412363. Epub 2011 Dec 6.
The aim of this study was to review the literature for the genetic mutations causing inherited factoe XIII (FXIII) deficiency in patients from Iran, where the consanguineous marriage is common. Data were collected from 30 patients (18 males and 12 females) with FXIII deficiency, from 26 unrelated families. Data of mutation analysis were obtained from 2 previously published studies. A total of 7 mutations consisting of 5 new mutations and 2 previously reported mutations were identified. Of the 5 novel missense mutations, 2, Arg77His and Trp187Arg, were the most common in Iranian FXIII-deficient patients. In regions like Iran with high rate of consanguineous marriages, the identification of common mutations in disease like severe FXIII deficiency increases the capacity to make a precise screening and diagnosis assays to screen and diagnose families with high risk of FXIII deficiency for prevention of clinical complications in them.
本研究旨在回顾伊朗遗传性因子 XIII (FXIII) 缺乏症患者的基因突变文献，因为在伊朗，近亲结婚很常见。数据来自 30 名 FXIII 缺乏症患者（18 名男性和 12 名女性），来自 26 个无关家庭。突变分析的数据来自之前的两项研究。共鉴定出 7 种突变，包括 5 种新突变和 2 种先前报道的突变。在伊朗等近亲结婚率高的地区，确定严重 FXIII 缺乏症等疾病的常见突变，可以提高进行精确筛查和诊断的能力，以筛查和诊断 FXIII 缺乏症高危家族，预防他们出现临床并发症。
