详情页 - 聚合机构库演示平台

当前位置：首页 > 详情页

Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China

文献详情

资源类型：

Pubmed体系：

作者：

单位： [1]Department of Pediatrics, Huazhong University of Science and Technology Tongji Medical College Tongji Hospital, Wuhan, China. [2]Department of Hematology, The Second People's Hospital of Anhui Province, Hefei, China. [3]Department of Hematology, The First Affiliated Hospital of University of Science and Technology of China, Hefei, China. [4]Department of Ultrasound, The First Affiliated Hospital of University of Science and Technology of China, Hefei, China. [5]Department of Pediatrics, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. [6]Department of Hematology, Jiangxi Provincial Children's Hospital, Nanchang, China. [7]Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. [8]Haemophilia Diagnosis and Treatment Center, Department of Hematology and Oncology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. [9]Department of Hematology, Xiangya Hospital Central South University, Changsha, China.

出处：

DOI：

ISSN：

关键词： hemophilia B gene mutation joint status quality of life carriers

摘要：

To study the current status of hemophilia B (HB) patients in the central and western regions of China.This cross-sectional, multicenter study was conducted in seven provinces in the central and western regions of China from April 2019 to June 2023. Samples were collected for the factor IX activity, inhibitor screen, and gene mutation. Furthermore, the status of six index joints and quality of life (QoL) were assessed.A total of 185 HB patients (mild 15, moderate 75, and severe 95) with a median age of 12.17 years were enrolled. 30.3% (56/185) of patients had a family history of HB. 34.6% (64/185) of HB patients had diagnostic delay and 38.5% (69/179) experienced treatment delay. The incidence of inhibitors was 6.1% (11/179). We identified 123 genetic variants in this study, with missense mutations being the most common. 84.0% (89/106) of HB mothers were genetically identified as carriers, with 27.7% (13/47) of carriers having clotting factor levels less than 0.40 IU/ml. 71.4% (132/185) of HB patients had a history of joint hemorrhage, with a rate of target joint in these patients was 64.4% (85/132). Lower extremity joints were most often affected in patients. The Hemophilia Joint Health Score (HJHS) score was significantly positively correlated with the Hemophilia Early Arthropathy Detection with Ultrasound in China (HEAD-US-C) (r = 0.542, P < 0.001). Patients who received prevention treatment, inhibitor negative, without treatment delay, and without high-intensity replacement therapy showed a higher total score of the short form-36 health survey (SF-36).One-third of HB patients had delay in diagnosis and treatment, and the incidence of inhibitors was 6.1%. Target joints were present in nearly half of HB patients. Missense was the main mutation type. 84.0% of mothers of HB patients in this study were found to be carriers. HEAD-US-C and HJHS can complement each other in the evaluation of joint status and give a valid basis for early clinical management. Early detection and preventive treatment, as well as reducing high-intensity replacement therapy and inhibitor generation, can effectively improve the QoL of patients.© 2024 Wang, Xu, Wu, Liu, Jin, Huang, Xu, Huang, Li, Liu, Zhang, Zhou, Peng and Hu.

语种：

PubmedID：

中科院(CAS)分区：

出版当年[2023]版：

大类 | 3 区医学

小类 | 3 区儿科

最新[2025]版：

大类 | 4 区医学

小类 | 3 区儿科

第一作者：

第一作者单位： [1]Department of Pediatrics, Huazhong University of Science and Technology Tongji Medical College Tongji Hospital, Wuhan, China.

通讯作者：

推荐引用方式(GB/T 7714)：

APA：

MLA：

Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China

文献详情

相关文献