住院贫血患儿病因分析

Analysis of the Etiologies of Anemia in Hospitalized Children

摘要: 目的：探索住院贫血患儿的病因构成、年龄分布特征及地中海贫血缺陷基因谱，了解泸州地区住院贫血患儿的贫血病因特点。方法：收集2014年至2022年于西南医科大学附属医院儿科病房住院并诊断为贫血的972例患儿的临床资料，进行回顾性分析。比较不同年龄段主要病因的构成差异；采用卡方检验及Bonferroni校正进行组间比较；对泸州地区地中海贫血缺陷基因类型进行分析。结果：972例患儿中，红细胞生成减少性贫血以缺铁性贫血(iron-deficiency anemia, IDA)、恶性肿瘤相关性贫血常见，红细胞破坏过多性贫血以地中海贫血、G-6-PD缺乏常见，混合性贫血中炎症性贫血最常见。住院贫血患儿不同年龄段贫血病因分布存在显著差异(P < 0.001)。在可获得完整基因报告的病例中，α-地贫最常见的基因缺失类型为--SEA/αα，β-地贫最常见的基因突变类型为CD17/N。结论：本地区住院贫血患儿病因集中，但病种繁多，不同年龄组病因分布差异显著，需对患儿进行全面的检查及问诊，并可针对年龄特点优化诊疗策略。基于可获得基因报告的病例，本地区地中海贫血突变基因以--SEA/αα和CD17/N为主，为地贫筛查及遗传咨询提供了初步的区域性参考依据。

Abstract: Objective: To explore the etiological composition, age distribution characteristics and thalassemia defect gene spectrum of hospitalized children with anemia, and to understand the etiological characteristics of anemia in hospitalized children with anemia in Luzhou area. Methods: The clinical data of 972 children who were hospitalized in the pediatric ward of the Affiliated Hospital of Southwest Medical University and diagnosed with anemia from 2014 to 2022 were collected and retrospectively analyzed. Compare the composition differences of the main causes of illness among different age groups; The chi-square test and Bonferroni correction were used for inter-group comparisons; The types of thalassemia defect genes in Luzhou area were analyzed. Among the 972 children, iron deficiency anemia (IDA) and anemia associated with malignant tumors were common types of anemia due to reduced erythropoiesis, thalassemia and G-6-PD deficiency were common types of anemia due to excessive destruction of erythropoiesis, and inflammatory anemia was the most common type of mixed anemia. There were significant differences in the distribution of anemia causes among hospitalized children with anemia of different age groups (P < 0.001). In cases where complete gene reports are available, the most common type of gene deletion for α-thalassemia is --SEA/αα, and the most common type of gene mutation for β-thalassemia is CD17/N. Conclusion: The causes of anemia in hospitalized children in this region are concentrated, but there are many types of diseases. The distribution of causes varies significantly among different age groups. Comprehensive examinations and consultations should be conducted for the children, and the diagnosis and treatment strategies can be optimized according to the age characteristics. Based on the cases with available gene reports, the thalassemia mutant genes in this region are mainly --SEA/αα and CD17/N, providing a preliminary regional reference basis for thalassemia screening and genetic counseling.