Objectives: To investigate the physical growth status of pediatric patients with transfusion-dependent thalassemia (TDT) and analyze the effects of treatment-related and socioeconomic factors on physical growth. Methods: Based on the specialized thalassemia database from gene therapy clinical research at the Institute of Hematology & Hospital of Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, we collected data on height and weight development, family economic status, and medical records of 338 pediatric patients with TDT from October 2023 to May 2024. The length/height-for-age and body mass index (BMI) -for-age were classified based on the Growth Standard for Children under 7 Years of Age, Standard for Height Level Classification among Children and Adolescents Aged 7-18 Years, and Dietary Guidelines for Chinese Residents. Logistic regression analysis was conducted to assess the effects of family economic status and disease-related treatment on length/height-for-age and BMI-for-age. Results: Among the 338 patients, 118 were children and 220 were adolescents (192 males and 146 females), with a median age of 12 years (range: 0.8-18) and a median diagnosis duration of 10.3 years (range: 0.5-17.9). Subtypes included α-thalassemia [21 cases (6.2%) ], β-thalassemia [288 cases (85.2%) ], and combined αβ-thalassemia[29 cases (8.6%) ]. The monthly household income of patients was concentrated in 3 000-5 000 yuan (39.9%) and 5 001-10 000 yuan (34.9%), whereas 67.2% of the families had monthly medical expenses of <3 000 yuan. Of the patients, 75.5% received their first transfusion before 1 year of age. The proportions of children and adolescents with pretransfusion hemoglobin (HGB) of ≤70 g/L were 4.2% and 6.4%, respectively. Adolescents demonstrated significantly higher rates of transfusion frequency of <4 weeks/session, monthly red blood cell infusion of >2 U, serum ferritin (SF) of ≥5 000 μg/L, iron chelation therapy, and splenectomy compared with children (all P<0.05). Of the 338 patients, 26.0%, 22.8%, and 8.9% demonstrated stunted growth, underweight, and concurrent stunted growth with underweight, respectively. No significant difference was observed in the stunted growth rates between children (22.9%) and adolescents (27.7%) (P=0.402). However, the underweight rate in adolescents (26.8%) was significantly higher than that in children (15.3%) (P=0.023). The multivariate analysis determined the following risk factors for stunted growth: monthly household income of <10 000 yuan (5 001-10 000 yuan: OR=5.49, 95% CI: 1.48-35.76; 3 000-5 000 yuan: OR=6.87, 95% CI: 1.88-44.60; <3 000 yuan: OR=9.29, 95% CI: 2.20-64.77), pretransfusion HGB of ≤70 g/L (OR=3.25, 95% CI: 1.07-10.18), and SF of ≥5 000 μg/L (OR = 3.04, 95% CI: 1.20-7.70). Longer diagnostic duration was associated with underweight (OR=1.10, 95% CI: 1.01-1.20) . Conclusions: Children and adolescents with TDT with pretransfusion SF of ≥5 000 μg/L, HGB of ≤70 g/L, low monthly household income, or longer diagnosis duration were significantly more likely to experience delayed physical growth.
目的： 调查输血依赖型地中海贫血（TDT）儿童及青少年的身高、体重发育情况，分析治疗、经济相关因素对体格发育的影响。 方法： 基于中国医学科学院血液病医院基因治疗TDT临床研究的专病数据库，收集2023年10月至2024年5月期间，338例TDT儿童及青少年的身高、体重发育情况，家庭经济状况及病案资料，并通过《7岁以下儿童生长标准》《7~18岁儿童青少年身高发育等级评价》及《中国居民膳食指南》对儿童及青少年年龄别身长/身高和年龄别体重指数（BMI）进行分级评价。采用Logistic回归分析家庭经济状况、疾病治疗等因素对年龄别身长/身高和年龄别BMI的影响。 结果： 338例患者中儿童118例、青少年220例，男192例、女146例，中位年龄12（0.8~18）岁，中位确诊年限10.3（0.5~17.9）年，其中α型、β型、αβ复合型分别为21例（6.2%）、288例（85.2%）、29例（8.6%）。患儿家庭月收入集中在3 000~5 000元（39.9%）、5 001~<10 000元（34.9%）；67.2%家庭医疗月支出<3 000元。75.5%的TDT儿童及青少年首次输血年龄在1岁以内，儿童组和青少年组输血前HGB水平≤70 g/L分别占4.2%和6.4%。青少年组输血频率<4周1次、每月输注>2 U红细胞、血清铁蛋白（SF）≥ 5 000 μg/L、接受去铁治疗和脾切除的比例均显著高于儿童组，差异均有统计学意义（均P<0.05）。338例TDT儿童及青少年中，生长发育迟缓率为26.0%，BMI消瘦率为22.8%，同时存在生长发育迟缓和BMI消瘦率为8.9%。儿童组和青少年组生长迟缓率分别为22.9%和27.7%，差异无统计学意义（P=0.402）；青少年组BMI消瘦率明显高于儿童组（26.8%对15.3%，P=0.023）。多因素回归显示，家庭月收入低于10 000元（5 001~<10 000元：OR=5.49，95%CI：1.48~35.76；3 000~5 000元：OR=6.87，95%CI：1.88~44.60；<3 000元：OR=9.29，95%CI：2.20~64.77）、输血前HGB≤70 g/L（OR=3.25，95%CI：1.07~10.18）、SF≥5 000 μg/L（OR=3.04，95%CI：1.20~7.70）均为生长迟缓的危险因素；确诊年限长为BMI消瘦的危险因素（OR=1.10，95%CI：1.01~1.20）。 结论： SF≥5 000 μg/L、输血前HGB≤70 g/L、家庭月收入低或确诊年限长的TDT儿童及青少年更容易出现体格发育迟缓。.
Keywords: Risk factor; Stunted growth; Thalassemia; Underweight.