Objective: To analyze the genotype distribution and hematological characteristics of children with thalassemia in Chongqing.
Methods: A total of 207 children with thalassemia admitted to Chongqing University Three Gorges Hospital from January 2021 to October 2022 were selected as the research objects. The genotype distribution and hematological characteristics were retrospectively analyzed.
Results: 207 cases of thalassemia were confirmed from 482 samples by gene detection, the detection rate was 42.95%, α-thalassemia accounted for 17.63%(85/482), β-thalassemia accounted for 24.27%(117/482), and compound αβ thalassemia accounted for 1.04%(5/482). A total of 5 gene mutation types of α-thalassaemia were detected in this study, which constituted 6 genotypes, αα/-SEA was the most common one, followed by αα/-α3.7. A total of 8 gene mutation types of β-thalassemia were detected, which constituted 9 genotypes, the top three were CD17/N, CD654/N and CD41-42/N. The highest detection rate was found in the patients aged 0-3 years (57%), and the degree of anemia was mainly mild (88.41%). 97.58% of the patients were MCV< 80 fl, 98.55% were MCH< 28 pg, 60.87% were MCHC< 320 g/L, and 71.50% were RDW-SD < 37%. The MCV and MCH of β-thalassemia group were lower than that of α-thalassemia group, and the MCHC was higher than that of α-thalassemia group (P <0.05), but RDW-SD was not significantly different between the two groups (P >0.05). There were no significant differences in MCV, MCH, MCHC and RDW-SD between β+/βN and β0/βN groups ( P >0.05). The MCV and RDW-SD of --/αα thalassemia group were lower than that in -α/αα thalassemia group, the differences were statistically significant (P < 0.05), but MCH and MCHC were not significantly different between the two groups (P >0.05).
Conclusion: The genotypes of children with thalassemia in Chongqing are diverse and heterogeneous, and the majority of them are mild anemia. There are differences in haematological indexes among different genotypes of thalassemia.
题目: 重庆地区地中海贫血患儿的临床分析.
目的: 分析重庆地区地中海贫血（地贫）患儿的基因型分布及血液学筛查特征。.
方法: 以2021年1月至2022年10月就诊于重庆大学附属三峡医院的207例地贫患儿为研究对象，回顾性分析本地区地贫患儿的基因型分布及血液学筛查特征。.
结果: 送检482份样本中通过基因检测确诊地贫207例，总检出率42.95%，其中α地贫检出率为17.63%(85/482)，β地贫检出率为24.27%(117/482)，α复合β地贫检出率为1.04%(5/482)。本次α地贫共计检出5种基因突变类型，组成6种基因型，其中以αα/-SEA、αα/-α3.7最为常见；β地贫共计检出8种基因突变类型，组成9种基因型，其中以CD17/N、CD654/N、CD41-42/N最为常见。送检样本中年龄在0-3岁（57%）检出率最高，贫血程度主要为轻度（88.41%），MCV<80 fl者占97.58%,MCH<28 pg者占98.55%，MCHC<320 g/L者占60.87%，RDW-SD<37%者占71.50%。β地贫组MCV、MCH均明显小于α地贫组(P < 0.05)，MCHC明显大于α地贫组 (P <0.05)，但两组间RDW-SD无统计学差异（P ＞0.05）。β+/βN 与β0/βN地贫患者的MCV、MCH、MCHC、RDW-SD组间比较均无统计学差异（P ＞0.05）；--/αα地贫组MCV、RDW-SD均低于-α/αα地贫组，差异具有统计学意义（P <0.05），但两组间MCH、MCHC均无统计学差异(P ＞0.05)。.
结论: 重庆地区儿童地贫基因型具有多样性及异质性，且以轻度贫血为主；基因型不同的地贫患儿血液学指标存在差异。.
Keywords: children; genes; thalassemia; Chongqing.