【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）A₂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HbA₂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HbA₂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HbA₂水平依次升高（P<0.05）。结论 HbA₂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。更多还原

【Abstract】 Objective To analyze the genotype distribution and hemoglobin（Hb）A₂ parameter characteristic in thalassemia carriers or patients. Methods The genotype distribution of 2 194 α-thalassemia and 970 β-thalassemia female carriers or patients was analyzed retrospectively,and the HbA₂ levels of 1 438 α-thalassemia and 646 β-thalassemia carriers or patients were also analyzed. A total of 1 629 healthy females without thalassemia were enrolled as control group. Results The α-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/αα and-α4.2/αα were common. There were 9 genotypes in trait group,and--SEA/αα was 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）. The β-thalassemia group included βE-thalassemia group（26 cases）,β+-thalassemia group（400 cases） and β0-thalassemia group（544 cases）. Just 1 genotype was identified in βE-thalassemia group,which was βCD26/βN. Four genotypes were identified in β+-thalassemia group,of which βIVS-Ⅱ-654/βN and β-28/βN were common. Eight genotypes were identified in β0-thalassemia group,of which βCD41-42/βN and βCD17/βN were common. HbA₂ levels were increased in the order of control,β+-thalassemia,β0-thalassemia and βE-thalassemia groups（P<0.05）. Conclusions HbA₂ is important for β-thalassemia and HbH disease screening,and the results of blood routine test should be also considered in genetic counseling in case of silent and trait α-thalassemia being ignored.更多还原