深圳龙华地区β-地中海贫血基因型与红细胞参数分析

Analysis of β-thalassemia genotype and erythrocyte parameters in Longhuaarea of Shenzhen

目的分析深圳市龙华地区最新β地中海贫血(地贫)携带(患)者基因型分布特点,并全面探讨该地区不同基因型的β地贫携带(患)者的血液学特征。方法以怀疑地贫就诊者为研究对象,采用PCR-流式荧光杂交法进行β地中海贫血基因突变检测,采用血细胞分析仪检测红细胞计数(RBC)、血红蛋白浓度(HGB)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)、红细胞分布宽度(RDW)等血液学参数;采用毛细血管电泳法检测血红蛋白亚型(HbA、HbA2和HbF)比率。并对14岁以上不同基因型组红细胞及血红蛋白参数进行t检验统计分析。结果从4 983例怀疑地贫就诊者标本中,检出400例β地中海贫血,检出率为8.03%。最常见3种基因型为CD41-42/N(137,34.25%)、IVS-II-654/N(122,30.50%)、CD17/N(56,14.00%)。β-地中海贫血患者血液学参数主要表现为HGB、MCV、MCH降低,即红细胞呈小细胞、低色素形态。与正常人参考值相比,男性β^0/β^N与β^+/β^N基因型的RDW和HbA2更高,女性β^0/β^N与β^+/β^N基因型MCV、MCH、MCHC更低,而RDW和HbA2更高,βE/β^N与β^0/β^N和β^+/β^N基因型在MCV、MCH、MCHC、RDW、HbA和HbA2参数上更接近正常人参考值,差异均有统计学意义(P<0.05)。结论深圳市龙华区β地贫基因突变最常见类型为CD41-42/N、IVS-II-654/N和CD17/N基因型,不同性别不同基因型的β地贫拥有其独特的血液学特征,可用于辅助不同类型地贫的参考鉴别。

Objective To analyze the characteristics of genotype distribution of the latestβ-thalassemia carriers(patients)in Longhua District,Shenzhen,and to explore the hematological characteristics of different subtypes ofβ-thalassemia carriers in this area.Methods Suspected patients with thalassemia were taken as the research object.PCR-flow fluorescence hybridization method was used to detectβ-thalassemia gene mutation,and hematology analyzer was used to detect red blood cell count(RBC),hemoglobin concentration(HGB),and mean red blood cell volume(MCV),Mean red blood cell hemoglobin amount(MCH),mean red blood cell hemoglobin concentration(MCHC),red blood cell distribution width(RDW)and other hematological parameters.Thecapillary electrophoresis was used to detect the ratio of hemoglobin subtypes(HbA,HbA2 and HbF).The t-test statistical analysis was performed on the parameters of red blood cells and hemoglobin of different genotype groups over 14 years old.Results 400 cases ofβ-thalassemia were genetically confirmed from 4983 subjects.The detection rate was 8.03%.The three most common genotypes are CD41-42/N(137,34.25%),IVS-II-654/N(122,30.50%),and CD17/N(56,14.00%).The hematological parameters of patients withβ-thalassemia are mainly represented by the decrease of HGB,MCV,and MCH,that is,the red blood cells are in the form of small cells and low pigment.Compared with normal reference values,maleβ0/βN andβ+/βN genotypes have higher RDW and Hb A2,femaleβ0/βN andβ+/βN genotypes have lower MCV,MCH,and MCHC,while RDW and Hb A2 are higher.High,βE/βN andβ0/βN andβ+/βN genotypes are closer to normal reference values in MCV,MCH,MCHC,RDW,Hb A and Hb A2 parameters,and the differences are statistically significant(P<0.05).Conclusion The most common types ofβ-thalassemia gene mutations in Longhua District,Shenzhen are CD41-42/N,IVS-II-654/N,and CD17/N genotypes.β-thalassemias with different genotypes of different genders havetheir unique hematological characteristics.It can be used to assist the reference identification of different types of thalassaemia.