Cai Yaohua, Lu Hui, Lin Wenyi, Xia Yunqing, Wu Tingting, Cheng Zhipeng, Tang Liang V, Hu Yu
Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Key Lab of Molecular Biological Targeted Therapies of the Ministry of Education, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Thromb Haemost. 2025 Oct;125(10):972-984. doi: 10.1055/a-2514-7520. Epub 2025 Jan 13.
To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population.Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.The cohort comprised 17 males (33.3%) and 34 females (66.7%), with a median diagnosis age of 35.0 years (interquartile range: 25.5-42.5). Of the patients, 35 (68.6%) were diagnosed with dysfibrinogenemia, 8 (15.7%) with hypofibrinogenemia, 7 (13.7%) with hypodysfibrinogenemia, and 1 (2.0%) with afibrinogenemia. The median diagnosis ages for the asymptomatic, Grade 1, Grade 2, and Grade 3 groups were 44.5 years (range: 37-58.5), 28 years (22.5-36.5), 35.5 years (21.75-41), and 28 years (22.75-30.75), respectively. The asymptomatic group had the latest diagnosis age, whereas Grade 3 had the earliest. A negative correlation was observed between Fg:C levels and bleeding severity (rs = - 0.2937, = 0.0365). In total, 52 variants were found in 51 unrelated patients, with one patient carrying two mutations. The 37 distinct mutations included 11 in FGA, 3 in FGB, and 23 in FGG.This study investigates the clinical, laboratory, and genetic characteristics of patients with CFD in China, revealing a negative correlation between Fg:C levels and bleeding severity. Female patients are at higher risk for gynecological complications due to physiological traits. Additionally, R35 in FGA and R301 in FGG were identified as hotspot mutations.
为研究中国人群中遗传性纤维蛋白原异常的分类、临床表现、实验室检查结果及基因突变情况。2015年2月至2022年2月期间，武汉协和医院共确诊65例先天性纤维蛋白原异常（CFD）患者。51例患者有完整数据，可进行回顾性分析。
该队列包括17例男性（33.3%）和34例女性（66.7%），中位诊断年龄为35.0岁（四分位间距：25.5 - 42.5）。其中，35例（68.6%）诊断为异常纤维蛋白原血症，8例（15.7%）为低纤维蛋白原血症，7例（13.7%）为低异常纤维蛋白原血症，1例（2.0%）为无纤维蛋白原血症。无症状组、1级、2级和3级组的中位诊断年龄分别为44.5岁（范围：37 - 58.5）、28岁（22.5 - 36.5）、35.5岁（21.75 - 41）和28岁（22.75 - 30.75）。无症状组诊断年龄最晚，3级组最早。纤维蛋白原含量（Fg:C）水平与出血严重程度呈负相关（rs = - 0.2937，P = 0.0365）。51例非亲缘关系患者共发现52个变异，其中1例患者携带两个突变。37个不同的突变包括FGA中的11个、FGB中的3个和FGG中的23个。
本研究调查了中国CFD患者的临床、实验室和遗传特征，揭示了Fg:C水平与出血严重程度之间的负相关。女性患者由于生理特征，发生妇科并发症的风险更高。此外，FGA中的R35和FGG中的R301被确定为热点突变。
