目的收集和分析儿童血友病的临床资料以及生活质量情况,了解目前四川省儿童血友病的现状,并作相关因素分析。方法收集2008年1月1日-2015年5月30日注册登记的儿童血友病患者资料,并进行统计分析。结果共收集到92例患者资料,均来自四川省内,年龄3.6~18.0岁,中位年龄9.6岁;血友病A 87例(94.6%),血友病B 5例(5.4%);轻型4例(4.3%),中间型67例(72.8%),重型21例(22.9%);18例(19.6%)有家族史。首次出血时月龄0~48个月,中位月龄11个月;首次出血为轻度出血23例(25.0%),中度出血31例(33.7%),重度出血38例(41.3%);首次出血部位多为皮肤黏膜,其次为关节肌肉。首次关节出血时月龄2~107个月,中位月龄18个月;46例(59.0%)在病程进展中有靶关节形成。4例(4.3%)患儿曾发生过颅内出血,其中3例临床治愈,1例有后遗症。获得诊断时月龄为0~120个月,中位月龄12个月;近期诊断62例(67.4%),中期诊断9例(9.8%),远期诊断21例(22.8%)。40例(43.5%)一直足剂量因子替代治疗,其余患儿未得到足量和充分的治疗。56例(60.9%)患儿接受过预防治疗,首次开始预防治疗的月龄为1~199个月,中位月龄36个月,27例(48.2%)患儿在治疗过程中终止预防治疗。共收集到29份疾病家庭负担量表,评分为4~43分,平均(22.7±11.6)分,其中11例(37.9%)日常活动无法自理。23例患儿评估了参与社会活动能力,其中2例处于失学状态,6例在校园不参与活动。相关性分析显示获得诊断时机与有无家族史及患儿所处地区无关(P=0.795、0.495),而与首次出血程度呈正相关(r=0.392,P=0.035)。疾病家庭负担与患儿靶关节数呈正相关(r=0.370,P=0.048),与所处地区及疾病程度、出血频率、医疗保险报销比例、日常活动能力均无相关性(P>0.05)。结论四川省儿童血友病诊断治疗仍相对滞后,关节病变发生率高,患儿生活质量差,疾病家庭负担重。 Objective To collect and analyze the clinical data of children with hemophilia and the quality of life, to understand the current situation of children with hemophilia in Sichuan Province, and make relevant factor analysis. Methods The data of children with hemophilia registered from January 1, 2008 to May 30, 2015 were collected and statistically analyzed. Results A total of 92 patients were collected, all from Sichuan province, aged from 3.6 to 18.0 years, with a median age of 9.6 years. Hemophilia A 87 cases (94.6%), hemophilia B 5 cases (5.4%), 4 cases (4.3%), 67 cases of intermediate type (72.8%), 21 cases of severe type (22.9%) and 18 cases (19.6%) had family history. The first month of hemorrhage was from 0 to 48 months with a median age of 11 months. Hemorrhage was mild to hemorrhage in 23 cases (25.0%), moderate bleeding in 31 cases (33.7%), severe bleeding in 38 cases (41.3% ; The first bleeding site mostly mucocutaneous, followed by joint muscles. The first joint hemorrhage month 2 to 107 months, the median age of 18 months; 46 cases (59.0%) in the course of the progress of the target joint formation. Intracranial hemorrhage occurred in 4 cases (4.3%), of which 3 cases were clinically cured and 1 case had sequelae. The age of diagnosis was from 0 to 120 months and the median age was 12 months. The recent diagnosis was 62 (67.4%), the intermediate diagnosis was 9 (9.8%) and the long-term diagnosis was 21 (22.8%). Forty patients (43.5%) had been treated with full-dose-factor replacement therapy and the remaining children were not given sufficient and adequate treatment. Fifty-six children (60.9%) received prophylaxis and treatment. The first months of prophylaxis were from 1 to 199 months. The median age was 36 months. 27 (48.2%) patients discontinued prophylaxis during treatment . A total of 29 family burden scales were collected. The scores ranged from 4 to 43, with an average of (22.7 ± 11.6) points. Of these, 11 (37.9%) were unable to take care of their daily activities. Twenty-three children were assessed for their ability to participate in social activities, two of whom were out of school and six not on campus. Correlation analysis showed that the timing of diagnosis was not related to the family history and the region of the child (P = 0.795,0.495), but positively correlated with the degree of first hemorrhage (r = 0.392, P = 0.035). The family burden of illness was positively correlated with the number of target joints in children (r = 0.370, P = 0.048). There was no correlation between the burden of disease and the prevalence of disease, frequency of outbreak, the proportion of reimbursement of medical insurance and the ability of daily activities (P> 0.05). Conclusion The diagnosis and treatment of children with hemophilia in Sichuan Province is still relatively lagged, the incidence of joint disease is high, the quality of life of children is poor, and the family burden of disease is heavy.