杭州地区儿童地中海贫血基因突变的类型及其与红细胞参数的关系研究

Genetic variation of children thalassemia in Hangzhou and its relationship with erythrocyte parameters

目的探讨杭州地区儿童地中海贫血基因突变类型及构成比并分析其与红细胞各参数的关系。方法回顾性选取2019年9月至2023年6月在杭州市儿童医院进行地中海贫血基因检测的535例儿童,分析当地儿童地中海贫血基因突变类型及构成情况,并选取本院同期健康体检的100名儿童(正常对照组)进行血常规、Hb电泳[HbA_(2)、HbA、胎儿Hb(HbF)]及网织红细胞检测,分析地中海贫血基因突变类型与红细胞各参数[红细胞压积(HCT)、平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)及平均红细胞血红蛋白浓度(MCHC)、红细胞体积分布宽度(RDW)]的差异。结果535例儿童中检出地中海贫血基因突变携带者319例,检出率为59.63%,包括α-地中海贫血145例,β-地中海贫血167例,αβ-复合型地中海贫血7例。与正常对照组比较,α-地中海贫血组及β-地中海贫血组的RBC和RDW水平明显升高,而Hb、HCT、MCV、MCH及MCHC水平明显降低,差异均有统计学意义(均P<0.01);与正常对照组比较,α-地中海贫血组的HbA_(2)、网织红细胞百分比明显降低,β-地中海贫血组的HbA_(2)、HbF、网织红细胞百分比明显升高,而HbA明显降低,差异均有统计学意义(均P<0.01);检测中常见的4种基因型αα/--SEA、β^(CDs41-42)/β、β^(IVS-Ⅱ-654)/β、β^(CD17)/β患儿的Hb、HCT、RDW比较差异均有统计学意义(均P<0.05)。结论杭州地区儿童地中海贫血基因型多样化,α-地中海贫血主要以--SEA多见,β-地中海贫血主要以IVS-Ⅱ-654和CDs41-42为主。不同的贫血类型的红细胞参数差异较大,常规检测血常规、网织红细胞及Hb电泳对于早期地中海贫血的筛查及诊断具有较大的临床价值。

Objective To explore the types and composition of thalassemia gene variation of children in Hangzhou and analyze its correlation with erythrocyte parameters.Methods From September 2019 to June 2023,535 children who underwent thalassemia gene testing in Hangzhou Children's Hospital were selected as the retrospective research subjects to analyze the type and composition of thalassemia gene variation in local children.Healthy children(normal control group)who underwent physical examination during the same period were selected for routine blood test,Hb electrophoresis[HbA_(2),HbA,and fetal hemoglobin(HbF)],and reticulocyte test to analyze the differences between the two groups in thalassemia gene mutation types and erythrocyte parameters[hematocrit(HCT),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and mean corpuscular hemoglobin concentration(MCHC),and red blood cell volume distribution width(RDW)].Results Among the 535 children who underwent thalassemia gene testing,319 were confirmed as carriers of thalassemia gene mutation,with a detection rate of 59.63%,including 145 cases ofα-thalassemia,167 cases ofβ-thalassemia,7 cases ofαβ-complex type thalassemia.Compared with the normal control group,the average levels of RBC and RDW in theα-thalassemia andβ-thalassemia groups were significantly higher,while the average levels of Hb,HCT,MCV,MCH,and MCHC were significantly lower(all P<0.01).In addition,when comparing with the normal control group,the HbA_(2)and percentages of reticulocytes inα-thalassemia group were significantly decreased,while inβ-thalassemia group,HbA_(2),HbF,and the percentages of reticulocytes were significantly increased,and HbA was significantly decreased,with statistical significance(all P<0.01).There were statistically significant differences in Hb,HCT,and RDW among the four common genotypes(αα/--SEA,β^(CDs41-42)/β,β^(IVS-Ⅱ-654)/β,β^(CD17)/β)in this test(all P<0.05).Conclusion The genotypes of children with thalassemia in Hangzhou are diverse.α-thalassemia is mainly characterized by--SEA,whileβ-thalassemia is mainly characterized by IVS-Ⅱ-654 and CDs41-42.Different types of anemia have significant differences in erythrocyte parameters.Blood routine tests,reticulocyte count,and Hb electrophoresis have significant clinical value for screening and diagnosing early thalassemia.