70例重型β地中海贫血儿童治疗及生长发育现状

Current treatment,growth and body development of 70 children with β-thalassemia major

目的分析中山地区70例重型β地中海贫血儿童治疗及生长发育现状。方法选取2014年1月至2016年12月于中山市人民医院治疗的70例重型β地中海贫血儿童为研究对象,收集并分析其临床资料,包括一般情况、身高、体重、性发育评价、并发症及治疗状况,检测输血前血红蛋白、血清铁蛋白,并分为规范治疗组及不规范治疗组,对两组的相关指标进行统计分析。结果 70例患儿中48例(68.57%)存在铁过载(>1 000ng/mL),重度铁过载(≥2 500ng/mL)19例(27.14%),身材矮小32例(45.71%),体重低下16例(22.86%),身材矮小同时伴体重低下15例(21.43%)。其中>10岁患儿22例,4例有自发性青春期发育(男4例,女1例),Tanner分期Ⅱ~Ⅲ期,18例无自发性青春期发育。并发症:脾功能亢进3例,贫血性心脏病3例,慢性心功能不全1例,自身免疫性溶血性贫血1例。治疗状况:规范输血及去铁42例(60.00%),不规范治疗28例(40.00%),不规范治疗组脾切除3例(4.29%),规范治疗组异基因造血干细胞移植并且治愈的有4例(5.71%)。规范治疗组铁过载、重度铁过载、身材矮小、体重低下比率均低于不规范治疗组,差异有统计学意义(χ~2值分别为6.36、16.48、12.43、4.38,均P<0.05)。结论采用定期规范输血及去铁治疗仍是重型β地中海贫血的基本治疗方法,规范重型β地中海贫血患儿的治疗及定期监测其血清铁蛋白、生长发育情况,早期识别和干预治疗,降低患儿身材矮小、体重低下发生率,促进性发育,从而改善患儿的生存质量,这需要国家、社会及家庭等多方的参与和支持,也需要提高临床医生规范治疗的认识以利于患儿的预后。

Objective To investigate the current treatment, growth and body development of 70 children with β-thalassemia major in Zhongshan area. Methods Seventy cases of β-thalassemia major treated in Zhongshan City People＇s Hospital from January 2014 to December 2016 were selected as research objects. Clinical data including general information, height, weight and sexual development evaluation, complications and treatment status were collected. Hemoglobin before blood transfusion and serum ferritin were detected. Patients were divided into standardized treatment group and nonstandardized treatment group, and related indexes in two groups were analyzed. Results Among 70 cases, 48 cases （68.57%） had iron overload （〉1 000ng/mL）, 19 cases （27.14%） had severe iron overload （≥2 500ng/mL）, 32 cases （45.71%） were short stature, 16 cases （22.86%） were underweight, and 15 cases （21.43%） were short stature accompanied by underweight. There were 22 patients older than 10, among which 4 patients had spontaneous puberty （4 males, 1 female）, with Tanner stage at Ⅱ -Ⅲ and 18 cases had no spontaneous puberty. Complications were hypersplenism in 3 cases, ischemic heart disease in 3 cases, chronic cardiac insufficiency in 1 case and autoimmune hemolytic anemia in 1 case. For treatment status, standardized blood transfusion and iron chelation therapy were provided for 42 cases （60.00%）, but 28 cases （40.00%） were treated with nonstandardized treatment. Splenectomy was performed in 3 patients （4.29 %） in nonstandardized treatment group, and 4 cases （5.71%） in standardized treatment group were treated with allogeneic hematopoietic stem cell transplantation and cured. Proportions of iron overload, severe iron overload, short stature and underweight in standardized treatment group were lower than those in nonstandardized treatment group, and differences were statistically significant （χ^2 values was 6.36, 16.48, 12.43 and 4. 38, respectively, all P〈0.05）. Conclusion Regular blood transfusion and iron chelation therapy is still the basic theraputic methods for β-thalassemia major patients. Improvement of life quality of children with β-thalassemia major could be achieved through standardized treatment, regular monitoring of serum ferritin, growth and development, early identification and intervention treatment, reduction of incidences of short stature and underweight, and promoting sexual development, which need social and family participation and support. Awareness of clinicians on standardized treatment needs to be increased to improve prognosis of patients.