重庆地区育龄人群地中海贫血不同基因型血液学特征的分析  

Hematological Characteristics of Different Genotypes of Thalassemia among Reproductive Population in Chongqing

作　　者：李思阅 李秋红[1] 易四维 李春莉[1] LI Si-Yue;LI Qiu-Hong;YI Si-Wei;LI Chun-Li(Department of Clinical Laboratory,Chongqing Health Center for Women and Children,Chongqing 401147,China)

机构地区：[1]重庆市妇幼保健院检验科,重庆401174

出　　处：《中国实验血液学杂志》2022年第1期211-216,共6页Journal of Experimental Hematology

基　　金：重庆市妇幼保健院院级课题(2019YJMS06)。

摘　　要：目的:探讨重庆地区育龄人群地中海贫血的血液学筛查及基因型分布特征。方法:29 145例育龄期个体进行血细胞分析及血红蛋白电泳检测,对筛查阳性的患者进一步行地中海贫血基因检测,分析地中海贫血患者基因型的分布及MCV、MCH、Hb A2特征。结果:--^(SEA)/αα(45.10%)、-α^(3.7)/αα(39.31%)和-α^(4.2)/αα(8.46%)为最常见的α地中海贫血基因型,CD17(HBB:c. 52A>T)(31.67%)、CD41-42(HBB:c. 126-129 del TTCT)(26.87%)和IVS-Ⅱ-654(HBB:c. 316-197 C>T)(24.21%)为最常见的β地中海贫血基因型。α地中海贫血基因型中,ααCS/αα有最低的Hb A2水平(2.18±0.23)%,而--^(SEA)/αα有最低的MCV(71.9±8.5)fl和MCH(22.7±3.3)pg水平。βE(HBB:c. 79G>A)基因型MCV(79.8±5.6)fl和MCH(26.3±1.9)pg明显高于其他型,而Hb A(72.2±5.9)%和Hb A2(3.41±0.37)%明显低于其他基因型。地中海贫血不同基因型其血液学指标Hb A、Hb A2、MCV和MCH水平在妊娠期和非妊娠期差异无统计学意义。结论:重庆地区不同基因型的地中海贫血患者其血液学指标表现存在差异,尚未发现妊娠对Hb A、Hb A2、MCV和MCH产生影响。Objective:To investigate the hematological characteristics and genotype distribution of thalassemia among people at reproductive age in Chongqing.Methods:Hematology analysis and capillary electrophoresis were performed in 29145 participants at reproductive age.The patients with positive results were confirmed by thalassemia genotyping.Genotype distribution and characteristics of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and HbA_(2) levels in thalassemia patients were analyzed.Results:--^(SEA)/αα(45.10%),-α^(3.7)/αα(39.31%)and-α^(4.2)/αα(8.46%)were the most common genotypes ofα-thalassemia,while CD17(HBB:c.52 A>T)(31.67%),CD41-42(HBB:c.126-129 del TTCT)(26.87%)and IVS-Ⅱ-654(HBB:c.316-197 C>T)(24.21%)were the most common genotypes ofβ-thalassemia in Chongqing.Inα-thalassemiaαα^(CS)/ααshowed the lowest HbA_(2) value(2.18±0.23)%,while--^(SEA)/ααshowed the lowest MCV(71.9±8.5)fl and MCH(22.7±3.3)pg value.The patients inβE(HBB:c.79 G>A)group showed comparatively higher values of MCV and MCH and significantly lower HbA and HbA_(2) values than the other genotypes.There was no significant difference in HbA,HbA_(2),MCV,MCH levels of the patients between pregnant group and non-pregnant group.Conclusions:In Chongqing,there are differences in hematological characteristics among patients with different thalassemia genotypes.There is no significant effect of pregnancy on HbA,HbA_(2),MCV and MCH has been found.

关 键 词：地中海贫血 筛查 基因检测 重庆 

分 类 号：R556.61[医药卫生—血液循环系统疾病]