Haemophilia B (HB) is a rare inherited bleeding disorder resulting from mutations in the F9 gene encoding clotting factor IX (FIX) responsible for blood clotting. Severe HB is characterized by recurrent and spontaneous bleeding typically into joints, muscles, and soft tissues. Delays in treatment may lead to crippling arthropathy, and bleeding into vital organs could be life-threatening. 1 The current status of patients with HB in China is poorly understood. This letter reports a real-world cohort of HB patients in China with a focus on their demographic profiles, clinical characteristics, and treatment strategies. We included all 3782 patients with a confirmed diagnosis of HB registered in the Haemophilia Treatment Centre Collaboration Network of China (HTCCNC) Registry from January 1, 2007 to March 25, 2021(data cutoff date). Demographics, clinical characteristics, and management were obtained through electronic medical records from the contributing hospitals. Paediatric patients (children) are defined as patients<18 years age at the time of data cutoff, adults being ≥18 years. Joint bleeding is defined as any symptom of the elbow, knee, or ankle requiring infusion of clotting factors. Joint deformity is defined as angulation and/or displacement of articulating bones. All statistical analyses were conducted using SPSS software version 26.0 (SPSS Inc., Chicago, IL, USA). The study was approved by the hospital-based ethic committee.The demographic characteristics of the studied population are shown in Table 1. All but two patients are male. Of the two female patient, one was 11 years old with severe haemophilia and another 26 years old with mild haemophilia. Paediatric patients accounted for
Introduction:The development of inhibitors against factor FIX (FIX) is the most serious complication of FIX replacement therapy in haemophilia B (HB) patients. Currently, only few cohorts of HB inhibitor patients have been reported worldwide.Aim: This Chinese nationwide study of HB inhibitor patients explored their risk factors for FIX inhibitor development and experience on their management. Methods:We retrospectively analysed patient characteristics, F9 genotypes, treatment strategies and outcomes of HB inhibitor patients registered to the Chinese National Registry and Patient Organization Registry.Results: Forty-four unique HB inhibitor patients were identified in 4485 unique HB patients registered by year 2021 to the two Registries. Inhibitor diagnosis were usually delayed and the low prevalence (.98%) may suggest some inhibitor patients were not identified. Their median age at inhibitor diagnosis was 7.5 (IQR, 3.0-14.8) years. Most
Introduction Women and girls with haemophilia (WGH) may have spontaneous/traumatic bleeding similar to that in males with haemophilia, and in addition excessive bleeding during menstruation and delivery. Aim To characterize WGH in China and provide guidance for better management. Methods We retrospectively analysed the characteristics of WGH registered in the Haemophilia Treatment Center Collaborative Network of China (HTCCNC) Registry, including demographics, diagnosis and treatment, bleeding characteristics, obstetrical and gynaecological experiences, and surgical history. Results A total of 61 females had confirmed haemophilia. Diagnosis and treatment were typically delayed, longer in mild haemophilia than in severe and moderate. The most frequently reported bleeding manifestations were haemarthrosis in severe and moderate patients, and cutaneous bleeding in mild patients. Among 45 postmenarcheal WGH, 21 (46.7%) had history of heavy menstrual bleeding, but only three received treatments. Prenatal diagnosis and management of perinatal haemorrhage were inadequate. Of 34 deliveries in 30 women, nine deliveries were complicated by postpartum haemorrhage, and 22 offspring carried mutations causing haemophilia. Forty‐four surgical procedures were performed in 29 patients. Those procedures receiving preoperative coagulation factors coverage were significantly less likely to have excessive bleeding than those who did not (P = .003). Conclusion This is the first and largest study describing WGH in China. There are currently deficiencies in the identification, diagnosis, and management of these patients. Improving health insurance policies, establishing haemophilia centres, and multidisciplinary teams for bleeding and perinatal or perioperative management will help reduce morbidity and mortality.
Introduction:Evaluating health-related quality of life (HRQoL) is vital for informing the improvement of the overall health of people with haemophilia (PwH). While there is lacking such data in China and comparisons with the general population. Aim:To evaluate the HRQoL and its associated factors among adults with haemophilia, and compare it with a sample of the general population in China. Methods:PwH were recruited in this study using telephone-based interviews. Demographic and clinical characteristics were first collected. HRQoL was then evaluated using the self-reported Short Form 6-dimensions version 2 (SF-6Dv2) instrument. An age and gender-matched sample of the general population in China was also included as the comparator group. Linear regression was used to assess the association between the SF-6Dv2 utility value and the demographic and clinical variables of the patients.Results: This study included 206 PwH (mean [SD] age: 41.36 [14.48] years) and 206 respondents from the general population. PwH reported worse levels in physical functioning, role limitation, social functioning, and mental health dimensions on SF-6Dv2 than the general respondents. The mean (SD) utility of patients was .650 (.251), which was significantly lower than the general respondents (.786 [.183], P < .001). Being a student, having a higher monthly income, absence of comorbidities, having no target joints and requiring no treatment are independent predictors of a higher HRQoL for PwH. Conclusion:This study provides the first practical evidence of a significantly lower level of HRQoL in PwH than in the general population in China.
Background Currently, there are few studies focusing on fatigue and health-related quality of life (HRQoL) longitudinally among immune thrombocytopenia (ITP) adults, especially in China. We aimed to evaluate changes in fatigue and HRQoL and identify the associated factors from admission to three months after discharge in Chinese adult ITP patients. Methods Patients’ characteristics, and the self-reported answers of the Functional Assessment of Chronic Illness Therapy (FACIT-F) and the ITP-specific Patient Assessment Questionnaire (ITP-PAQ) at admission (T0), at discharge (T1), and three months after discharge (T2) were collected. Linear mixed effects models were used to examine overall changes over time and associated factors in FACIT-F and ITP-PAQ scores at T0, T1, T2. Results The data of 175 ITP adults were included. The mean score of FACIT-F at T0 was 37.2 and increased to 39.0 at T1, while then tended to decrease to the level of baseline at T2 (34.7). Patients who were single, retired, had persistent ITP, splenomegaly had more severe fatigue, whereas those who had not received any prior treatment and had a bleeding score of 0 at admission had milder fatigue. The mean score of ITP-PAQ was 57.7 at T0, then gradually increased to 60.3 at T1 and 62.8 at T2. Patients with persistent ITP and those who have never received treatment for ITP have better HRQoL. Conclusion Adult ITP patients in China have non-negligible impairment in fatigue and HRQoL. Patients' fatigue improved at discharge but worsened at three months after discharge, while HRQoL gradually improved over time.
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