Dorgalaleh Akbar, Tabibian Shadi, Hosseini Maryam Sadat, Farshi Yadolla, Roshanzamir Fateme, Naderi Majid, Kazemi Ahmad, Zaker Farhad, Aghideh Ali Noroozi, Shamsizadeh Morteza
a Department of Hematology and Blood Transfusion, School of Allied Medical Sciences , Iran University of Medical Sciences , Tehran , Iran.
b Department of Hematology and Blood Transfusion, School of Allied Medical Sciences , Tehran University of Medical Sciences , Tehran , Iran.
Hematology. 2016 Aug;21(7):430-9. doi: 10.1080/10245332.2015.1101975. Epub 2016 Mar 30.
Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder with estimated incidence of one per two million. All routine coagulation tests are normal in FXIII deficiency (FXIIID), which complicates the diagnosis of this disorder. Precise diagnosis of FXIIID requires more specific tests, including qualitative tests as well as quantitative tests such as FXIII activity, antigen assays, and finally molecular studies to confirm FXIIID.
This study was conducted to present different quantitative and qualitative methods as well as molecular approaches for screening and diagnosis of FXIIID with advantages and disadvantages of each method.
All relevant English-language publications were searched in Medline (until 2015).
Clot solubility assay is the most widely used method for detection of FXIIID but it is not standardized. The sensitivity of this method is dependent upon different factors mainly clotting factors and the solubilizing agents; therefore, FXIII activity assay is recommended for screening of FXIIID. Among FXIII activity assays, photometric assay is more common but FXIII activity is overestimated in this assay due to lack of sample blank in commercial assay, which can have fatal consequences in severe FXIIID, for which fluorometric assay is an appropriate alternative preventing the overestimation observed in photometric assay. There are different methods for measurement of FXIII-A2, FXIII-B2, and FXIII-A2B2 as well as detection and quantification of FXIII inhibitor, which are mentioned in detail in this review. There are no mutational hotspots in FXIII-A and FXIII-B genes with a few recurrent mutations in some populations; therefore, full sequencing of FXIII genes has remained a main molecular approach for confirmation of FXIIID.
Familiarity with different methods for diagnosis of FXIIID and their advantages and disadvantages can help in appropriate and timely diagnosis of this disorder to prevent misdiagnosis of FXIIID and its fatal consequences.
凝血因子 XIII（FXIII）缺乏症是一种极为罕见的出血性疾病，估计发病率为每两百万分之一。在 FXIII 缺乏症（FXIIID）中，所有常规凝血试验结果均正常，这使得该疾病的诊断变得复杂。FXIIID 的准确诊断需要更特异的检测方法，包括定性试验以及诸如 FXIII 活性、抗原测定等定量试验，最终还需要进行分子研究以确诊 FXIIID。
本研究旨在介绍用于 FXIIID 筛查和诊断的不同定量和定性方法以及分子方法，并阐述每种方法的优缺点。
在 Medline 数据库中检索所有相关的英文出版物（截至 2015 年）。
凝块溶解度测定是检测 FXIIID 最常用的方法，但该方法未标准化。此方法的灵敏度取决于多种因素，主要是凝血因子和溶解剂；因此，推荐采用 FXIII 活性测定来筛查 FXIIID。在 FXIII 活性测定方法中，比色法更为常用，但由于商业检测试剂盒中缺乏样品空白对照，该方法会高估 FXIII 活性，这在严重 FXIIID 中可能会产生致命后果，而荧光测定法是一种合适的替代方法，可避免比色法中出现的高估现象。本文详细介绍了测量 FXIII - A2、FXIII - B2 和 FXIII - A2B2 以及检测和定量 FXIII 抑制剂的不同方法。FXIII - A 和 FXIII - B 基因不存在突变热点，仅在某些人群中有少数复发性突变；因此，FXIII 基因的全序列测定仍然是确诊 FXIIID 的主要分子方法。
熟悉 FXIIID 的不同诊断方法及其优缺点，有助于对该疾病进行恰当及时的诊断，从而防止 FXIIID 的误诊及其致命后果。
