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

• Published in: Frontiers in pediatrics 2024-05, Vol.12, p.1366990-1366990
• Main Authors: Wang, Wen, Xu, Li, Wu, Jingsheng, Liu, Weiyong, Jin, Jiao, Huang, Jing, Xu, Zhongjin, Huang, Yali, Li, Bai, Liu, Yufeng, Zhang, Qing, Zhou, Min, Peng, Jie, Hu, Qun
• Format: Article
• Language: English
• Subjects: carriers; gene mutation; hemophilia B; joint status; Pediatrics; quality of life
• ISSN: 2296-2360; 2296-2360
• DOI: 10.3389/fped.2024.1366990

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) (  = 0.542,