摘要
目的:研究血友病A患者凝血因子Ⅷ抑制物形成的临床特点。方法:收集在我院就诊的FⅧ抑制物阳性患者的临床资料并进行回顾性分析。采用Excel表进行登记管理,并对数据进行描述性分析。结果:152例血友病A患者中FⅧ抑制物阳性者20例(13.2%)。首次出血中位月龄为11.5个月(5~101个月)。预防治疗者7例(35.0%)(其中4例患者预防治疗前有按需治疗史),按需治疗者13例(65.0%)。出现抑制物的中位年龄为3岁4个月,中位暴露日为25 d。行基因突变检测者12例(60.0%),其中内含子22倒位者4例(33.3%),其次为无义突变(16.7%)、小片段缺失(16.7%)。结论:血友病A患儿抑制物产生率为13.2%。产生抑制物的中位暴露日为25 d。本组抑制物阳性患者中最常见的基因突变类型是内含子22倒位。
Objective: To analyze the clinical characteristics of hemophilia A patients with FⅧ inhibitor. Methods: The clinical data of patients with FⅧ inhibitor in our hospital were collected and retrospectively analyzed. Excel was used to register and analyze the data. Results: Among 152 patients, 20 cases(13.2%) were FⅧ inhibitor positive. The median age of first hemorrhage was 11.5 months(ranging from 5 to 101 months). Seven cases(35.0%) received preventive treatment(4 cases of them had a history of on-demand treatment before preventive treatment) and 13 cases(65.0%) received on-demand treatment. The median age of 20 patients with positive inhibitor was 3.3 years, and the median exposure time was 25 days. Twelve cases(60.0%) underwent gene mutation detection, among which 4 cases(33.3%) had Inv 22, followed by nonsense mutation(16.7%) and small deletions(16.7%). Conclusion: The incidence of inhibitor development is 13.2%. The median exposure day time is 25 days. Inv 22 is the dominant type of mutations in patients with inhibitor.
作者
王稳
崔东艳
蒋丽娟
尹萌萌
徐雨婷
刘爱国
胡群
WANG Wen;CUI Dongyan;JIANG Lijuan;YIN Mengmeng;XU Yuting;LIU Aiguo;HU Qun(Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College of Huazhong University of Science and Technology,Wuhan,430030,China)
出处
《临床血液学杂志》
CAS
2021年第1期31-34,共4页
Journal of Clinical Hematology
基金
HERO(Haemophilia Experience,Results,and Opportunities)基金。
关键词
血友病A
凝血因子Ⅷ
抑制物
暴露日
基因突变
hemophilia A
coagulation factorⅧ
inhibitor
exposure day
gene mutation
