[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):541-544,557.[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(5):541-544,557.[doi:DOI:10.3969/j.issn.1000-7377.2023.05.010]
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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
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
52
期数:
2023年5期
页码:
541-544,557
栏目:
临床研究
出版日期:
2023-05-05

文章信息/Info

Title:
Prenatal screening and genotype distribution of α-thalassemia in pregnant women in Suizhou area of Hubei
作者:
刘 静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 Jing; HUANG Hongyao
(Graduate School,Jinzhou Medical University,Jinzhou 121001,China)
关键词:
孕妇;  α-地中海贫血;  随州;  产前筛查;  基因型;  调查研究
Keywords:
Pregnant woman;  α-thalassemia;  Suizhou;  Prenatal screening;  Genotype;  Investigation and study
分类号:
R 556.9
DOI:
DOI:10.3969/j.issn.1000-7377.2023.05.010
文献标志码:
A
摘要:
目的:探讨随州地区孕妇产前α-地中海贫血(简称α-地贫)检出情况及基因型分布特点,为该地区地贫防控提供科学依据。方法:选择进行产前检查的5275例孕妇,采用红细胞参数分析联合血红蛋白成分进行初筛,对初筛阳性者进行血红蛋白电泳和基因型检测。结果:5275例孕妇中,初筛α-地贫表型阳性581例,阳性率11.01%。581例α-地贫表型阳性孕妇进行α地贫基因检测,185例携带α-地贫基因,检出率为31.84%。在185例确诊的α-地贫基因携带孕妇中,共检出静止型α-地贫(-α3.7/αα、-α4.2/αα、αQS125α/αα、αWS122α/αα、αWS142α/αα)、轻型(-SEA/αα、-α3.7/-α3.7、-α3.7/-α4.2、-α4.2/-α4.2、-α3.7/αQS125α、-α3.7/αWS122α、-α3.7/αWS142α、-α4.2/αWS122α)和中间型(-SEA/-α3.7、-SEA/-α4.2)3种α-地贫基因型,其中以静止型(63.24%)和轻型α-地贫(32.43%)居多。α-地贫组与非α-地贫组孕妇血液学参数比较,α-地贫组血红蛋白(Hb)、红细胞体积(MCV)、血红蛋白浓度(MCH)、血红蛋白A2(HbA2)均低于非α-地贫组(均P<0.05)。不同基因型α-地贫孕妇血液学参数比较差异有统计学意义(均P<0.05),组间Hb、MCV、MCH、HbA2比较,静止型>轻型>中间型,差异有统计学意义(均P<0.05)。结论:随州市孕妇α-地贫表型阳性率及基因携带率均较高,基因型多样,应加强该地区孕妇的产前α-地贫筛查,防止重度地贫患儿出生。
Abstract:
Objective:To investigate the detection and genotypes distribution characteristics of prenatal α-thalassemia in pregnant women in Suizhou,and to provide scientific basis for the prevention and control of thalassemia in this area.Methods:A total of 5275 pregnant women undergoing prenatal examinations were enrolled.All underwent preliminary screening by the analysis of red blood cell parameter combined with hemoglobin components,and then positive cases were tested by hemoglobin electrophoresis and genotyping.Results:Among the 5275 pregnant women,there were 581 cases(11.01%)with α-thalassaemia in preliminary screening.In the 581 pregnant women with α-thalassemia,gene detection showed that there were 185 cases(31.84%)with α-thalassemia gene.In the 185 pregnant women with α-thalassemia gene,there were 3 kinds of α-thalassemia genotypes,including static type(-α3.7/αα,-α4.2/αα,αQS125α/αα,αWS122α/αα,αWS142α/αα),mild type(-SEA/αα,-α3.7/-α3.7、-α3.7/-α4.2,-α4.2/-α4.2,-α3.7/αQS125α,-α3.7/αWS122α,-α3.7/αWS142α,-α4.2/αWS122α)and middle type(-SEA/-α3.7,-SEA/-α4.2),mainly on static type(63.24%)and mild type(32.43%).The levels of hemoglobin(Hb),mean corpuscular volume(MCV),mean corpuscular hemoglobin concentration(MCH)and hemoglobin A2(HbA2)in α-thalassemia group were lower than those in non-thalassemia group(all P<0.05).There were significant differences in hematological parameters among pregnant women with different α-thalassemia genotypes(all P<0.05).Hb,MCV,MCH and HbA2 were the highest in patients with static type,followed by mild type and middle type(all P<0.05).Conclusion:The positive rate and gene-carrying rate of α-thalassemia are high in pregnant women in Suizhou,and the genotypes are diverse.Strengthening prenatal screening of α-thalassemia has great significance for preventing the birth of neonates with severe thalassemia.

参考文献/References:

[1] 赵振东,王 洁,许海珠.海南省白沙黎族自治县新生儿地中海贫血基因特征[J].中华地方病学杂志,2021,40(10):808-812.
[2] 周艳洁,黄永全,黄水芬.地中海贫血大人群干预方法探讨[J].实用医学杂志,2021,37(4):482-485,492.
[3] Zhuang J,Jiang Y,Wang Y,et al.Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China[J].J Clin Pathol,2020,73(5):278-282.
[4] Lal A,Bansal D.Thalassemia:Common clinical queries in management[J].Indian J Pediatr,2020,87(1):75-81.
[5] 邓翎洁,庞丽红.组学在地中海贫血中的研究进展[J].基因组学与应用生物学,2021,40(1):2405-2413.
[6] 裴元元,冉 健,丛潇怡,等.血红蛋白A2筛查地中海贫血截断值的探讨[J].中国妇幼保健,2019,34(1):128-130.
[7] 张之南.血液病学[M].2版.北京:人民卫生出版社,2011:9.
[8] Panyasai S,Pornprasert S.Association of Hb A2 variants with several forms of α- and β-thalassemia in Thailand[J].Hemoglobin,2020,44(3):179-183.
[9] 周春桥,黎新艳,庞彩英,等.中孕期胎盘厚度Z-评分对重型α-地中海贫血的预测价值[J].中国医学影像学杂志,2021,29(3):260-263.
[10] 杜 萌,朱宝生,吕 涛.地中海贫血致病机制及基因治疗进展[J].医学动物防制,2017,33(1):58-61.
[11] Horvei P,MacKenzie T,Kharbanda S.Advances in the management of α-thalassemia major:Reasons to be optimistic[J].Hematology Am Soc Hematol Educ Program,2021,2021(1):592-599.
[12] Zhang J,Liu Z,Chen R,et al.A MALDI-TOF mass spectrometry-based haemoglobin chain quantification method for rapid screen of thalassaemia[J].Ann Med,2022,54(1):293-301.
[13] 石海杰,赵振东.海南省白沙黎族自治县2020年新生儿地中海贫血基因携带情况及其特点分析[J].中国全科医学,2021,24(35):4512-4515,4524.
[14] 钟玉杭,叶立新,蔡小娟,等.东莞地区新生儿地中海贫血基因特征及变化趋势[J].中国当代儿科杂志,2020,22(5):454-459.
[15] 达珍珍,陈兰花,蒋红梅,等.新的珠蛋白基因突变引起少见地中海贫血四例报告及文献复习[J].中华血液学杂志,2021,42(4):313-317.
[16] 余 晖,杨清香,刘 春,等.湘西土家族苗族自治州22940例孕妇地中海贫血筛查结果分析[J].中国实验血液学杂志,2022,30(1):206-210.
[17] 李 猛,项松鹤,丁 一,等.中国海南省三亚地区地中海贫血基因类型分析[J].中国实验血液学杂志,2018,26(4):1146-1150.
[18] 曾祥兴,曾小琼,陈继鸿,等.广东河源客家人群α-地中海贫血基因变异类型分析[J].中华医学遗传学杂志,2020(5):588-591.
[19] 童芳芳,孙 慧,方小桂.武汉地中海贫血流行病学调查及基因突变类型与频率分析[J].中华实用诊断与治疗杂志,2015,29(8):759-760.
[20] 杨 胜,沈国松,金 帆.浙江北部地区孕妇地中海贫血筛查及基因型构成分析[J].中华医学遗传学杂志,2019,36(5):519-521.
[21] 刘 利,余楚壬,李珊珊,等.α-地中海贫血基因携带者709例红细胞参数、血红蛋白A2及基因检测结果分析[J].广东医学,2021,42(8):1006-1008.
[22] Mirzakhani M,Tarrahi MJ,Baghersad A,et al.Can couples with MCV≥80,MCH<26,HbA2<3.2,HbF<3 be classified as low-risk β-thalassemia group?[J].J Pediatr Hematol Oncol,2019,41(4):303-306.
[23] Jiang F,Ju AP,Li J,et al.Hb westmead(HBA2:c.369C>G):Hematological characteristics in heterozygotes with and without α0-thalassemia[J].Hemoglobin,2020,44(3):153-155.
[24] 王 栋,张 丹,颜新生,等.武汉市经开区人群地中海贫血基因检测结果及血液学筛查指标分析[J].标记免疫分析与临床,2022,29(8):1369-1372,1440.
[25] 张春荣,韦柳婷,覃灵燕.α-地中海贫血患者的MCV、MCH变化和基因型分析[J].中国优生与遗传杂志,2020,28(6):677-678.

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备注/Memo

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