[1]刘 平,黄宏耀.湖北随州地区孕妇2772例β-地中海贫血基因型分布及血常规参数变异调查研究[J].陕西医学杂志,2023,52(6):760-763.[doi:DOI:10.3969/j.issn.1000-7377.2023.06.027]
　LIU Ping,HUANG Hongyao.Genotypes distribution of β-thalassemia and variation of blood routine parameters in 2772 cases of pregnant women in Suizhou,Hubei[J].,2023,52(6):760-763.[doi:DOI:10.3969/j.issn.1000-7377.2023.06.027]
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湖北随州地区孕妇2772例β-地中海贫血基因型分布及血常规参数变异调查研究
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
52
期数:
2023年6期
页码:
760-763
栏目:
调查研究
出版日期:
2023-06-05

文章信息/Info

Title:
Genotypes distribution of β-thalassemia and variation of blood routine parameters in 2772 cases of pregnant women in Suizhou,Hubei
作者:
刘 平1; 2; 黄宏耀1
(1.锦州医科大学研究生学院,辽宁 锦州 121001; 2.随州市中心医院检验科,湖北 随州 441300)
Author(s):
LIU Ping; HUANG Hongyao
(Graduate School of Jinzhou Medical University,Jinzhou 121001,China)
关键词:
β-地中海贫血;  随州;  孕妇;  基因检测;  基因型;  血常规参数
Keywords:
β-thalassemia;  Suizhou;  Pregnant woman;  Gene testing;  Genotype;  Blood routine parameter
分类号:
R 556.61
DOI:
DOI:10.3969/j.issn.1000-7377.2023.06.027
文献标志码:
A
摘要:
目的:探讨湖北随州地区孕妇β-地中海贫血基因型分布特征及其血常规参数变异情况。方法:收集进行地中海贫血筛查的孕妇2772例,对β-地中海贫血血液学表型阳性者进行β-地中海贫血基因检测。将检出β-地中海贫血基因突变的孕妇纳入β-地中海贫血组,并按1:1比例随机选取非地中海贫血孕妇纳入非地中海贫血组。比较β-地中海贫血组与非地中海贫血组血常规参数。比较β+突变和β0突变孕妇血常规参数。结果:2772例接受地中海贫血筛查的孕妇中,经血常规参数分析初筛阳性362例(13.06%),进一步血红蛋白(Hb)电泳分析发现β-地中海贫血血液学表型阳性91例(3.28%)。β-地中海贫血基因检测发现82例(2.96%)存在β-地中海贫血基因突变,其中4种β+突变(IVS-Ⅱ-654、CAP、-28、-29)共37例(45.12%),5种β0突变(CD71-72、CD27-28、CD41-42、CD17、CD14-15)共45例(54.88%),占比最高的3种基因型分别是IVS-Ⅱ-654(36.59%)、CD41-42(23.17%)和CD17(18.29%)。β-地中海贫血组中红细胞分布宽度(RDW)≥15%、Hb<110 g/L、平均红细胞体积(MCV)<82 fl、平均红细胞血红蛋白含量(MCH)<27 pg以及MCV<82 fl和(或)MCH<27 pg的孕妇比例显著高于非地中海贫血组(均P<0.05)。β+突变组RDW显著低于β0突变组,而Hb、MCV和MCH显著高于β0突变组(均P<0.05)。结论:湖北随州地区孕妇β-地中海贫血基因型复杂多样,以IVS-Ⅱ-654和CD41-42突变为主,且不同基因型的血液学参数具有显著差异,联合血液学筛查具有一定的经济效益。
Abstract:
Objective:To explore the distribution characteristics of β-thalassemia genotypes and the variation of blood routine parameters in pregnant women in Suizhou,Hubei.Methods:A total of 2772 pregnant women who were screened for thalassemia were collected,and those with positive hematological phenotype of β-thalassemia were tested for β-thalassemia gene.The pregnant women with β-thalassemia gene mutation were included in the β-thalassemia group,and the pregnant women without thalassemia were randomly selected in the non-thalassemia group according to a ratio of 1:1.The blood routine parameters were compared between β-thalassemia group and non-thalassemia group.The blood routine parameters of pregnant women with β+ mutation and β0 mutation were compared.Results:Among the 2772 pregnant women,blood routine parameters analysis showed that there were 362 positive cases(13.06%).The further hemoglobin(Hb)electrophoresis analysis showed that there were 91 cases(3.28%)with positive β-thalassemia hematological phenotype.The gene testing showed that there were 82 cases(2.96%)with β-thalassemia gene mutations,including 37 cases(45.12%)with 4 kinds of β+ mutations(IVS-Ⅱ-654,CAP,-28,-29)and 45 cases(54.88%)with 5 kinds of β0 mutations(CD71-72,CD27-28,CD41-42,CD17,CD14-15).The genotypes with proportions on the top three were IVS-Ⅱ-654(36.59%),CD41-42(23.17%)and CD17(18.29%).The proportions of pregnant women with red blood cell distribution width(RDW)≥15%,Hb <110 g/L,mean corpuscular volume(MCV)<82 fl,mean corpuscular hemoglobin(MCH)<27 pg,and MCV <82 fl and/or MCH <27 pg in β-thalassemia group were significantly higher than those in non-thalassemia group(all P<0.05).RDW in β+ mutation group was significantly lower than that in β0 mutation group,while Hb,MCV and MCH were significantly greater than those in β0 mutation group(all P<0.05).Conclusion:The genotypes of β-thalassemia are complex and diverse in pregnant women in Suizhou,Hubei,mainly on IVS-Ⅱ-654 and CD41-42 mutations.There are significant differences in hematological parameters among different genotypes.The combined hematological screening has certain economic benefits.

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相似文献/References:

[1]刘 静,黄宏耀.湖北随州地区孕妇α-地中海贫血产前筛查及基因型分布特点研究[J].陕西医学杂志,2023,52(5):541.[doi:DOI:10.3969/j.issn.1000-7377.2023.05.010]
　LIU Jing,HUANG Hongyao.Prenatal screening and genotype distribution of α-thalassemia in pregnant women in Suizhou area of Hubei[J].,2023,52(6):541.[doi:DOI:10.3969/j.issn.1000-7377.2023.05.010]

备注/Memo

备注/Memo:
基金项目:湖北省卫生健康委员会科研立项课题(WJ2019M099)
更新日期/Last Update: 2023-06-05