地中海贫血携带(患)者基因型分布及HbA_2参数特征  

Genotype distribution and HbA_2 parameter characteristic in thalassemia carriers or patients

作　　者：罗茗月[1] 肖克林[1] 蓝慧娟[1] 麦光兴[1] 熊礼宽[1] LUO Mingyue;XIAO Kelin;LAN Huijuan;MAI Guangxing;XIONG Likuan(Central Laboratory,Shenzhen Baoan Maternal and Child Health Hospital,Shenzhen 518102,Guangdong,China)

机构地区：[1]深圳市宝安区妇幼保健院中心实验室,广东深圳518102

出　　处：《检验医学》2018年第9期803-806,共4页Laboratory Medicine

基　　金：广东省科技计划项目(2013B022000010);深圳市三名工程项目(SZSM 201406007)

摘　　要：目的分析地中海贫血(简称地贫)携带(患)者基因型分布及血红蛋白(Hb)A_2的参数特征。方法回顾分析2 194例α-地贫和970例β-地贫女性携带(患)者的基因型分布以及其中1 438例α-地贫和646例β-地贫携带(患)者HbA_2的水平。选取1 629名非地贫健康女性,作为对照组。结果α-地贫组分为静止型组(740例)、标准型组(1 400例)和HbH病组(54例)。静止型组有5种基因型,以-α3.7/αα和-α4.2/αα为主;标准型组有9种基因型,以--SEA/αα为主;HbH病组有5种基因型,以-α3.7/--SEA为主。对照组、静止型组、标准型组和HbH病组的HbA_2水平依次降低(P<0.05),但对照组与静止型组比较差异无统计学意义(P>0.05)。β-地贫组分为βE-地贫组(26例)、β+-地贫组(400例)和β0-地贫组(544例),βE-地贫组只有βCD26/βN 1种基因型;β+-地贫组有4种基因型,以βIVS-Ⅱ-654/βN和β-28/βN为主;β0-地贫组有8种基因型,以βCD41-42/βN和βCD17/βN为主。对照组、β+-地贫组、β0-地贫组和βE-地贫组的HbA_2水平依次升高(P<0.05)。结论 HbA_2对β-地贫和HbH病的筛查参考价值较大,遗传咨询中应同时结合血常规检测结果进行分析,从而避免静止型、标准型的漏检。Objective To analyze the genotype distribution and hemoglobin(Hb)A2 parameter characteristic in thalassemia carriers or patients.Methods The genotype distribution of 2 194α-thalassemia and 970β-thalassemia female carriers or patients was analyzed retrospectively,and the HbA2 levels of 1 438α-thalassemia and 646β-thalassemia carriers or patients were also analyzed.A total of 1 629 healthy females without thalassemia were enrolled as control group.Results Theα-thalassemia group included silent group(740 cases),trait group(1 400 cases)and HbH disease group(54 cases).There were 5 genotypes in silent group,and-α3.7/ααand-α4.2/ααwere common.There were 9 genotypes in trait group,and--SEA/ααwas common.There were 5 genotypes in HbH disease group,and-α3.7/--SEA was common.There was no statistical significance for HbA2 levels between control and silent groups(P>0.05),and the levels of HbA2 were decreased in turn in control,silent,trait and HbH disease groups(P<0.05).Theβ-thalassemia group includedβE-thalassemia group(26 cases),β+-thalassemia group(400 cases)andβ0-thalassemia group(544 cases).Just 1 genotype was identified inβE-thalassemia group,which wasβCD26/βN.Four genotypes were identified inβ+-thalassemia group,of whichβIVS-Ⅱ-654/βN andβ-28/βN were common.Eight genotypes were identified inβ0-thalassemia group,of whichβCD41-42/βN andβCD17/βN were common.HbA2 levels were increased in the order of control,β+-thalassemia,β0-thalassemia andβE-thalassemia groups(P<0.05).Conclusions HbA2 is important forβ-thalassemia and HbH disease screening,and the results of blood routine test should be also considered in genetic counseling in case of silent and traitα-thalassemia being ignored.

关 键 词：地中海贫血 基因型 血红蛋白 

分 类 号：R446.1[医药卫生—诊断学]