Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, Iran.
Department of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center For Children And Adolescents Health [RCCAH], Zahedan University of Medical Sciences, Zahedan, Iran.
Semin Thromb Hemost. 2015 Apr;41(3):323-9. doi: 10.1055/s-0034-1395350. Epub 2015 Jan 23.
Factor XIII deficiency (FXIIID) is a rare bleeding disorder with an estimated prevalence of 1 in 2-million population worldwide. In Iran, a Middle Eastern country with a high rate of consanguineous marriages, there are approximately 473 patients afflicted with FXIIID. An approximately 12-fold higher prevalence of FXIIID is estimated in Iran in comparison with overall worldwide frequency. In this study, we have undertaken a comprehensive review on different aspects of FXIIID in the Iranian population. The distribution of this disease in different regions of Iran reveals that Sistan and Baluchestan Province has not only the highest number of patients with FXIIID in Iran but the highest global incidence of this condition. Among Iranian patients, umbilical cord bleeding, hematoma, and prolonged wound bleeding are the most frequent clinical manifestations. There are several disease causing mutations in Iranian patients with FXIIID, with Trp187Arg being the most common mutation in FXIIID in Iran. Traditionally, the management of FXIIID in Iran was only based on administration of fresh frozen plasma or cryoprecipitate, until 2009 when FXIII concentrate became available for patient management. Various studies have evaluated the efficacy and safety of prophylactic regimens in different situations with valuable findings. Although the focus of this study is on Iran, it offers considerable insight into FXIIID, which can be applied more extensively to improve the management and quality of life in all affected patients.
凝血因子 XIII 缺乏症（FXIIID）是一种罕见的出血性疾病，全球估计患病率为每 200 万人中有 1 人患病。在伊朗，这个中东国家中近亲结婚率很高，约有 473 名 FXIIID 患者。与全球总体频率相比，伊朗 FXIIID 的患病率估计高出约 12 倍。在这项研究中，我们对伊朗人群中 FXIIID 的不同方面进行了全面综述。这种疾病在伊朗不同地区的分布表明，锡斯坦和俾路支省不仅是伊朗 FXIIID 患者数量最多的地区，也是这种疾病全球发病率最高的地区。在伊朗患者中，脐部出血、血肿和伤口长时间出血是最常见的临床表现。伊朗 FXIIID 患者存在多种致病突变，其中 Trp187Arg 是伊朗 FXIIID 中最常见的突变。传统上，伊朗 FXIIID 的治疗仅基于输注新鲜冷冻血浆或冷沉淀，直到 2009 年 FXIII 浓缩物可用于患者管理。各种研究已经评估了不同情况下预防性方案的疗效和安全性，得出了有价值的发现。尽管本研究的重点是伊朗，但它为 FXIIID 提供了相当深入的了解，可以更广泛地应用于改善所有受影响患者的管理和生活质量。
