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Article(id=1324051004613861929, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1324050876230415089, articleNumber=null, orderNo=null, doi=10.20043/j.cnki.MPM.202512450, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1766592000000, receivedDateStr=2025-12-25, revisedDate=null, revisedDateStr=null, acceptedDate=null, acceptedDateStr=null, onlineDate=1793607959178, onlineDateStr=2026-11-02, pubDate=1781020800000, pubDateStr=2026-06-10, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1793607959178, onlineIssueDateStr=2026-11-02, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1793607959178, creator=13701087609, updateTime=1793607959178, updator=13701087609, issue=Issue{id=1324050876230415089, tenantId=1146029695717560320, journalId=1227665162245664772, year='2026', volume='53', issue='11', pageStart='1921', pageEnd='2112', issueExtLink='null', onlineDate='null', pubDate='1781020800000', pubDateStr='2026-06-10', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=null, createTime=1793607928569, creator='13701087609', updateTime=1793670049253, updator='13701087609', preIssue=null, nextIssue=null, articleTotal=null, ext={EN=IssueExt(id=1324311429322507008, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1324050876230415089, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1324311429322507009, tenantId=1146029695717560320, journalId=1227665162245664772, issueId=1324050876230415089, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null, downloadFileDto=null}, startPage=2018, endPage=2023, ext={EN=ArticleExt(id=1324051004878103082, articleId=1324051004613861929, tenantId=1146029695717560320, journalId=1227665162245664772, language=EN, title=Prenatal screening results and genotype distribution features of thalassemia in pregnant women in Zunyi area, columnId=1228016568949474136, journalTitle=Modern Preventive Medicine, columnName=Child and Adolescent Health, Maternal and Child Health, runingTitle=null, highlight=null, articleAbstract=
Objective

To understand the prenatal screening results and genotype distribution features of thalassemia among pregnant women in Zunyi area, and to provide a scientific basis for the development and optimization of thalassemia prevention and control strategies.

Methods

A retrospective analysis was conducted on the clinical data of 1 876 pregnant women who underwent prenatal check-ups at the First People’s Hospital of Zunyi from February 2023 to September 2023. All 1 876 pregnant women were initially screened for thalassemia using red blood cell indices and hemoglobin electrophoresis. Thalassemia gene detection based on third-generation sequencing technology was performed for screening-positive pregnant women and 228 voluntarily tested screening-negative pregnant women. The positive rate of thalassemia screening, the rate of genetic diagnosis and the distribution features of genotypes were analyzed.

Results

Among 1 876 pregnant women, 178 cases (9.49%) were positive for thalassemia screening, and 67 cases (37.64%) were diagnosed with thalassemia through genetic testing, including 41 cases of α-thalassemia and 26 cases of β-thalassemia. A total of 228 pregnant women with negative thalassemia screening voluntarily underwent thalassemia gene testing, and 14 cases of thalassemia carriers were detected (with a carrier rate of 6.14%), all of whom were α-thalassemia carriers. A total of 55 cases (67.90%) of α-thalassemia and 26 cases (32.10%) of β-thalassemia were detected in this study, and the carrier rate of α-thalassemia was higher than that of β-thalassemia. Among them, the main genotypes of α-thalassemia were --SEA/αα (30.91%) and -α3.7/αα (27.27%). The main genotypes of β-thalassemia were CD17/N (38.46%) and CD41-42/N (26.92%).

Conclusion

The carrier rate of thalassemia among pregnant women in Zunyi area is relatively high, with α-thalassemia being predominant. The main genotypes are --SEA/αα (α-thalassemia), -α3.7/αα (α-thalassemia), CD17/N (β-thalassemia), and CD41-42/N (β-thalassemia), and a certain proportion of missed cases in the initial screening and rare genotypes were observed.

, authors=Rong-hua ZHENG, Xiao-zhi WU, Mao-yong LIU, Lian-li HE, Ting FENG, authorsList=Rong-hua ZHENG, Xiao-zhi WU, Mao-yong LIU, Lian-li HE, Ting FENG, authorCompany=null, correspAuthors=null, authorNote=null, correspAuthorsNote=null, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=null, pdfFileSize=null, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, fund=null), CN=ArticleExt(id=1324051005628883501, articleId=1324051004613861929, tenantId=1146029695717560320, journalId=1227665162245664772, language=CN, title=遵义地区孕妇人群地中海贫血产前筛查结果分析及基因型特征, columnId=1228016570031604578, journalTitle=现代预防医学, columnName=儿少卫生与妇幼保健, runingTitle=null, highlight=null, articleAbstract=
目的

了解遵义地区孕妇人群的地中海贫血（简称地贫）产前筛查结果及基因型分布特征，为该地区地中海贫血防控策略的优化提供科学依据。

方法

回顾性分析2023年2—9月于遵义市第一人民医院进行产前检查的1 876例孕妇的临床资料。1 876例孕妇均采用红细胞指数、血红蛋白电泳进行地贫初筛，对初筛阳性及228例自愿检测的初筛阴性孕妇实施基于第三代测序技术的地贫基因检测，分析地贫筛查阳性率、基因确诊率及基因型分布特征。

结果

1 876例孕妇地贫筛查阳性178例（9.49%），经基因检测确诊地贫67例（37.64%），其中α-地贫41例，β-地贫26例。228例地贫筛查阴性的孕妇自愿行地贫基因检测，检出地贫携带者14例（携带率6.14%），均为α-地贫。本研究共检测出α-地贫55例（67.90%），β-地贫26例（32.10%），α-地贫的携带率高于β-地贫。其中α-地贫主要基因型为--SEA/αα（30.91%）、-α3.7/αα（27.27%）；β-地贫主要基因型为CD17/N（38.46%）、CD41-42/N（26.92%）。

结论

遵义地区孕妇地贫携带率较高，以α-地贫为主，主要基因型为--SEA/αα（α-地贫）、-α3.7/αα（α-地贫）、CD17/N（β-地贫）和CD41-42/N（β-地贫），且存在一定比例的初筛漏诊及罕见基因型。

, authors=郑荣华, 伍小智, 刘茂永, 何连利, 凤婷, authorsList=郑荣华, 伍小智, 刘茂永, 何连利, 凤婷, authorCompany=null, correspAuthors=null, authorNote=

郑荣华（1985—），女，硕士，主治医师，研究方向：妇产科方面工作研究

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郑荣华（1985—），女，硕士，主治医师，研究方向：妇产科方面工作研究

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Labeled Immunoassays and Clinical Medicine, 2025, 32(1): 58-62.(In Chinese), articleTitle=Genotypic and hematologic phenotypic characteristics of 231 patients with thalassemia, refAbstract=null)], funds=[Fund(id=1324051010620105308, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, awardId=遵市科合HZ字（2023）59号, language=CN, fundingSource=遵义市科技计划项目(遵市科合HZ字（2023）59号), fundOrder=null, country=null)], companyList=[AuthorCompany(id=1324051005884736046, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, xref=null, ext=[AuthorCompanyExt(id=1324051005897318959, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, companyId=1324051005884736046, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=Department of Obstetrics and Gynecology, Zunyi First People’s Hospital (Third Affiliated Hospital of Zunyi Medical University), Zunyi, Guizhou 563000, China), AuthorCompanyExt(id=1324051005914096176, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, companyId=1324051005884736046, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=遵义市第一人民医院（遵义医科大学第三附属医院）妇产科，贵州 遵义 563000)])], figs=[ArticleFig(id=1324051009873519188, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=EN, label=Table 1, caption=

Results of missed diagnosis of thalassemia gene testing

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型MCV（fl）MCH（pg）HbA2（%）HbF（%）
-α3.7/αα321.43静止型83.2、84.5、82.827.3、27.8、27.12.8、2.9、3.01.2、1.1、1.3
αWSα/αα214.29静止型85.1、84.728.2、27.92.7、2.81.0、1.2
αCSα/αα17.14静止型86.328.52.91.1
αααanti3.7321.43静止型84.2、83.8、85.427.6、28.1、28.32.6、2.7、2.81.3、1.2、1.0
αααanti4.2214.29静止型85.6、84.928.4、28.02.8、2.91.1、1.2
c.300+43G>A非缺失型杂合突变17.14静止型83.527.72.71.0
c.301-24delinsCTCGGCCC非缺失型杂合突变17.14静止型84.328.22.91.1
c.354_355insATC非缺失型杂合突变17.14静止型85.228.32.81.2
合计14100.00
), ArticleFig(id=1324051009953210965, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=CN, label=表1, caption=

漏诊地贫基因检测结果

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型MCV（fl）MCH（pg）HbA2（%）HbF（%）
-α3.7/αα321.43静止型83.2、84.5、82.827.3、27.8、27.12.8、2.9、3.01.2、1.1、1.3
αWSα/αα214.29静止型85.1、84.728.2、27.92.7、2.81.0、1.2
αCSα/αα17.14静止型86.328.52.91.1
αααanti3.7321.43静止型84.2、83.8、85.427.6、28.1、28.32.6、2.7、2.81.3、1.2、1.0
αααanti4.2214.29静止型85.6、84.928.4、28.02.8、2.91.1、1.2
c.300+43G>A非缺失型杂合突变17.14静止型83.527.72.71.0
c.301-24delinsCTCGGCCC非缺失型杂合突变17.14静止型84.328.22.91.1
c.354_355insATC非缺失型杂合突变17.14静止型85.228.32.81.2
合计14100.00
), ArticleFig(id=1324051010058068566, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=EN, label=Table 2, caption=

Results of α-thalassemia gene testing

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型对应基因
--SEA/αα1730.91轻型
-α3.7/αα1527.27静止型
αααanti3.7/α α59.10静止型
αCSα/αα47.27静止型HBA2
αWSα/αα23.64静止型HBA2
αααanti4.2/α α23.64静止型
c.300+43G>A非缺失型杂合突变11.82静止型HBA2
c.301-24delinsCTCGGCCC非缺失型杂合突变11.82静止型HBA2
c.354_355insATC非缺失型杂合突变11.82静止型HBA1
c.364G>A非缺失型杂合突变11.82静止型
c.301-31_301-24delinsG非缺失型杂合突变11.82静止型
c.184A>T非缺失型杂合突变11.82静止型
αCSα/αααanti3.711.82静止型或轻型
αααanti3.7，c.301-24delinsCTCGGCCC非缺失型杂合突变11.82静止型
-α4.2α/αTα11.82轻型
--SEA/αααanti3.711.82轻型
合计55100.00
), ArticleFig(id=1324051010146148951, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=CN, label=表2, caption=

α-地中海贫血基因检测结果

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型对应基因
--SEA/αα1730.91轻型
-α3.7/αα1527.27静止型
αααanti3.7/α α59.10静止型
αCSα/αα47.27静止型HBA2
αWSα/αα23.64静止型HBA2
αααanti4.2/α α23.64静止型
c.300+43G>A非缺失型杂合突变11.82静止型HBA2
c.301-24delinsCTCGGCCC非缺失型杂合突变11.82静止型HBA2
c.354_355insATC非缺失型杂合突变11.82静止型HBA1
c.364G>A非缺失型杂合突变11.82静止型
c.301-31_301-24delinsG非缺失型杂合突变11.82静止型
c.184A>T非缺失型杂合突变11.82静止型
αCSα/αααanti3.711.82静止型或轻型
αααanti3.7，c.301-24delinsCTCGGCCC非缺失型杂合突变11.82静止型
-α4.2α/αTα11.82轻型
--SEA/αααanti3.711.82轻型
合计55100.00
), ArticleFig(id=1324051010242617944, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=EN, label=Table 3, caption=

Results of β-thalassemia gene testing

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型
CD17(A>T)/N1038.46轻型
CD41/42(-TTCT)/N726.92轻型
IVS-II-654(C>T)/N311.54轻型
Hb E27.69轻型
-50(G>A)13.85轻型
-28(A>G)13.85轻型
Cap+43/+40(-AAAC)β+型杂合突变13.85轻型
3.5kb deletion13.85轻型
合计26100.00
), ArticleFig(id=1324051010330698329, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=CN, label=表3, caption=

β-地中海贫血基因检测结果

, figureFileSmall=null, figureFileBig=null, tableContent=
基因型例数构成比（%）表型
CD17(A>T)/N1038.46轻型
CD41/42(-TTCT)/N726.92轻型
IVS-II-654(C>T)/N311.54轻型
Hb E27.69轻型
-50(G>A)13.85轻型
-28(A>G)13.85轻型
Cap+43/+40(-AAAC)β+型杂合突变13.85轻型
3.5kb deletion13.85轻型
合计26100.00
), ArticleFig(id=1324051010414584410, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=EN, label=Table 4, caption=

Diagnostic performance analysis of screening indicators for confirming thalassemia genes (n=178)

, figureFileSmall=null, figureFileBig=null, tableContent=
初筛阳性条件灵敏度（%）特异度（%）约登指数
MCV<82fl或MCH<27pg89.55（60/67）55.86（62/111）0.454
HbA2异常（<2.4%或>3.2%）68.66（46/67）78.38（87/111）0.470
联合标准（MCV<82fl或MCH<27pg或HbA2异常）95.52（64/67）41.44（46/111）0.370
双重标准（MCV<82fl或MCH<27pg且HbA2异常）62.69（42/67）92.79（103/111）0.555
), ArticleFig(id=1324051010498470491, tenantId=1146029695717560320, journalId=1227665162245664772, articleId=1324051004613861929, language=CN, label=表4, caption=

初筛指标对地贫基因确诊的诊断性能分析（n=178）

, figureFileSmall=null, figureFileBig=null, tableContent=
初筛阳性条件灵敏度（%）特异度（%）约登指数
MCV<82fl或MCH<27pg89.55（60/67）55.86（62/111）0.454
HbA2异常（<2.4%或>3.2%）68.66（46/67）78.38（87/111）0.470
联合标准（MCV<82fl或MCH<27pg或HbA2异常）95.52（64/67）41.44（46/111）0.370
双重标准（MCV<82fl或MCH<27pg且HbA2异常）62.69（42/67）92.79（103/111）0.555
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遵义地区孕妇人群地中海贫血产前筛查结果分析及基因型特征
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郑荣华 , 伍小智 , 刘茂永 , 何连利 , 凤婷
现代预防医学 | 儿少卫生与妇幼保健 2026,53(11): 2018-2023
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现代预防医学 |儿少卫生与妇幼保健 2026 , 53 (11) : 2018 -2023
遵义地区孕妇人群地中海贫血产前筛查结果分析及基因型特征
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郑荣华, 伍小智, 刘茂永, 何连利, 凤婷
作者信息
  • 遵义市第一人民医院（遵义医科大学第三附属医院）妇产科，贵州 遵义 563000
作者简介:

郑荣华（1985—），女，硕士，主治医师，研究方向：妇产科方面工作研究

Prenatal screening results and genotype distribution features of thalassemia in pregnant women in Zunyi area
Rong-hua ZHENG, Xiao-zhi WU, Mao-yong LIU, Lian-li HE, Ting FENG
Affiliations
  • Department of Obstetrics and Gynecology, Zunyi First People’s Hospital (Third Affiliated Hospital of Zunyi Medical University), Zunyi, Guizhou 563000, China
出版时间: 2026-06-10 doi: 10.20043/j.cnki.MPM.202512450
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摘要
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目的

了解遵义地区孕妇人群的地中海贫血（简称地贫）产前筛查结果及基因型分布特征，为该地区地中海贫血防控策略的优化提供科学依据。

方法

回顾性分析2023年2—9月于遵义市第一人民医院进行产前检查的1 876例孕妇的临床资料。1 876例孕妇均采用红细胞指数、血红蛋白电泳进行地贫初筛，对初筛阳性及228例自愿检测的初筛阴性孕妇实施基于第三代测序技术的地贫基因检测，分析地贫筛查阳性率、基因确诊率及基因型分布特征。

结果

1 876例孕妇地贫筛查阳性178例（9.49%），经基因检测确诊地贫67例（37.64%），其中α-地贫41例，β-地贫26例。228例地贫筛查阴性的孕妇自愿行地贫基因检测，检出地贫携带者14例（携带率6.14%），均为α-地贫。本研究共检测出α-地贫55例（67.90%），β-地贫26例（32.10%），α-地贫的携带率高于β-地贫。其中α-地贫主要基因型为--SEA/αα（30.91%）、-α3.7/αα（27.27%）；β-地贫主要基因型为CD17/N（38.46%）、CD41-42/N（26.92%）。

结论

遵义地区孕妇地贫携带率较高，以α-地贫为主，主要基因型为--SEA/αα（α-地贫）、-α3.7/αα（α-地贫）、CD17/N（β-地贫）和CD41-42/N（β-地贫），且存在一定比例的初筛漏诊及罕见基因型。

遵义  /  孕妇  /  地中海贫血  /  产前筛查  /  基因型
Objective

To understand the prenatal screening results and genotype distribution features of thalassemia among pregnant women in Zunyi area, and to provide a scientific basis for the development and optimization of thalassemia prevention and control strategies.

Methods

A retrospective analysis was conducted on the clinical data of 1 876 pregnant women who underwent prenatal check-ups at the First People’s Hospital of Zunyi from February 2023 to September 2023. All 1 876 pregnant women were initially screened for thalassemia using red blood cell indices and hemoglobin electrophoresis. Thalassemia gene detection based on third-generation sequencing technology was performed for screening-positive pregnant women and 228 voluntarily tested screening-negative pregnant women. The positive rate of thalassemia screening, the rate of genetic diagnosis and the distribution features of genotypes were analyzed.

Results

Among 1 876 pregnant women, 178 cases (9.49%) were positive for thalassemia screening, and 67 cases (37.64%) were diagnosed with thalassemia through genetic testing, including 41 cases of α-thalassemia and 26 cases of β-thalassemia. A total of 228 pregnant women with negative thalassemia screening voluntarily underwent thalassemia gene testing, and 14 cases of thalassemia carriers were detected (with a carrier rate of 6.14%), all of whom were α-thalassemia carriers. A total of 55 cases (67.90%) of α-thalassemia and 26 cases (32.10%) of β-thalassemia were detected in this study, and the carrier rate of α-thalassemia was higher than that of β-thalassemia. Among them, the main genotypes of α-thalassemia were --SEA/αα (30.91%) and -α3.7/αα (27.27%). The main genotypes of β-thalassemia were CD17/N (38.46%) and CD41-42/N (26.92%).

Conclusion

The carrier rate of thalassemia among pregnant women in Zunyi area is relatively high, with α-thalassemia being predominant. The main genotypes are --SEA/αα (α-thalassemia), -α3.7/αα (α-thalassemia), CD17/N (β-thalassemia), and CD41-42/N (β-thalassemia), and a certain proportion of missed cases in the initial screening and rare genotypes were observed.

Zunyi  /  Pregnant women  /  Thalassemia  /  Prenatal screening  /  Genotype
郑荣华, 伍小智, 刘茂永, 何连利, 凤婷. 遵义地区孕妇人群地中海贫血产前筛查结果分析及基因型特征. 现代预防医学, 2026 , 53 (11) : 2018 -2023 . DOI: 10.20043/j.cnki.MPM.202512450
Rong-hua ZHENG, Xiao-zhi WU, Mao-yong LIU, Lian-li HE, Ting FENG. Prenatal screening results and genotype distribution features of thalassemia in pregnant women in Zunyi area[J]. Modern Preventive Medicine, 2026 , 53 (11) : 2018 -2023 . DOI: 10.20043/j.cnki.MPM.202512450
正文
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地中海贫血（简称地贫）是因珠蛋白基因缺陷（如突变），导致相应珠蛋白肽链合成变少或完全缺失引发的单基因遗传性溶血性贫血，其临床常见且呈常染色体隐性遗传[1]。根据受累珠蛋白链可分两类，即α-地贫、β-地贫；根据临床表现又可进一步划分，即静止型、轻型、中间型、重型[2-3]。调查中国地贫高发区，发现其主要分布于长江以南地区，具体来说涵盖广西壮族自治区（简称广西）以及广东等多个省份[4-6]。贵州省为多民族省份（聚居着汉族、苗族等多个民族），其不同民族间地贫发生率有差异[7-9]。重型及中间型地贫患者需长期依赖输血、去铁治疗，不仅严重影响身心健康与生活质量，还会给家庭带来沉重的医疗经济负担，同时消耗大量社会医疗资源。因此，开展针对性的地贫筛查与防控工作，对降低重症患儿出生率、减轻疾病负担具有重要现实意义。遵义市作为贵州省常住人口较多、多民族聚居的典型地区，其地贫流行病学特征和基因型分布尚未展开深入且系统的研究，在一定程度上限制了区域性地贫精准防控策略的制定与优化。深入分析遵义地区孕妇地贫基因型分布特征，既是对贵州多民族地贫遗传谱系的补充完善，也能为当地优化产前筛查流程、降低重症患儿出生率提供科学依据。基于此，本研究回顾性分析2023年2—9月于遵义市第一人民医院进行产前检查的
1 876例孕妇的临床资料，分析遵义地区孕妇人群地贫基因型的分布情况，为评估本地筛查效率、厘清主要及罕见基因型分布特征，进而制定符合遵义地区人群遗传特点的精准化防控与产前诊断方案提供可靠的本土数据支撑。
1　资料与方法
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1.1　一般资料
采用回顾性流行病学调查方法。回顾性分析2023年2—9月于遵义市第一人民医院进行产前检查的1 876例孕妇的临床资料。纳入标准：（1）单胎妊娠；（2）遵义地区常住人口（在遵义地区连续居住时间≥1年）；（3）临床资料完整。排除标准：（1）合并有缺铁性贫血（血清铁蛋白<14 μg/L）、巨幼细胞性贫血等其他类型血液系统疾病者；（2）近期（3个月内）有输血史者；（3）合并严重肝肾功能不全、自身免疫性疾病者。
本研究方案经遵义市第一人民医院伦理委员会审查批准，批件号：伦审(2023)-1-244号。
1.2　方法
1.2.1　地贫初筛
采集孕妇外周静脉血2 ml（EDTA抗凝），用全自动血细胞分析仪（型号：SysmexXN-1000）检测红细胞指数，包括平均红细胞体积（mean corpuscular volume，MCV）、平均红细胞血红蛋白量（mean corpuscular haemoglobin，MCH）；采用全自动毛细管电泳仪（型号：Capillarys 2 Flex Piercing）进行血红蛋白电泳分析，检测参数包括血红蛋白A2（haemoglobin A2，HbA2）、胎儿血红蛋白（haemoglobin fetal，HbF）及异常血红蛋白峰。
初筛阳性判定标准：（1）MCV<82fl和/或MCH<27pg；（2）HbA2>3.2%或<2.4%、HbF>2.0%；（3）出现异常血红蛋白峰。满足上述任一条件即判定为初筛阳性。
1.2.2　第三代地贫基因检测
采用贝瑞基因提供的第三代地贫基因检测技术（单分子实时DNA测序）对地贫筛查阳性及228例自愿要求进一步检测的地贫初筛阴性孕妇进行地贫基因诊断。本技术检测下限为0.1%（变异等位基因频率，allele frequency，AF），覆盖范围包括《地中海贫血预防控制操作指南》[1]及国际血红蛋白变异体数据库（v5.1.7）中已收录的人类珠蛋白基因变异位点，确保对α-地贫253种变异型及β-地贫368种变异型，检测特异性>99.9%，灵敏度>99.5%。共检测621种变异类型，包括253种α-地贫和368种β-地贫。
1.2.3　基因型判定标准
参照《地中海贫血预防控制操作指南》[1]。
1.2.4　计算方法
地贫基因携带率估算：本研究采用两阶段验证性抽样设计，通过验证性抽样加权法对总体地贫基因携带率及初筛性能进行校正估计，规避未检测人群导致的估算偏差。结果显示，遵义地区筛查孕妇人群的地贫基因校正携带率7.1%（95% CI：5.6%～9.0%）。以任一初筛指标（MCV<82 fl、MCH<27 pg、HbA2异常）阳性为筛查标准，其校正灵敏度为94.1%（95% CI：87.2%～97.4%），校正特异度44.2%（95% CI：41.8%～46.6%），校正阳性预测值12.6%，校正阴性预测值98.8%。其中，校正灵敏度较高，提示该初筛标准能有效识别绝大多数地贫携带者；特异度偏低，导致阳性预测值较低，表明初筛阳性者需进一步通过三代测序明确诊断，避免过度干预。校正灵敏度=真阳性估计数/总携带者估计数；校正特异度=真阴性估计数/总非携带者估计数。校正阳性预测值=真阳性人数/(真阳性+假阳性)；校正阴性预测值=真阴性人数/(真阴性+假阴性)。
1.3　统计学分析
采用Excel对数据进行录入和分析，计数资料以例数及率表示。不同民族间地贫携带率差异采用χ2检验；总体携带率与初筛诊断性能采用两阶段验证性抽样加权法估计，以初筛阴性抽样验证子集为参照进行权重校正，非直接采用简单频数与百分比计算。计量资料用（）表示。
2　结果
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2.1　地贫初筛结果
依据纳排标准筛选，最终纳入1 876例孕妇的临床资料，孕妇年龄21～42岁，平均（29.36±3.25）岁；汉族1 651例，仡佬族116例，苗族109例；胎次1次1 023例，2次685例，3次168例；1 876例孕妇中，经MCV、MCH、血红蛋白电泳筛查阳性178例（178/1 876，9.49%），完成基因检测178例（无脱落），初筛阴性1 698例（1 698/1 876，90.51%），自愿基因检测228例，总基因检测406例，确诊地贫携带者81例。初筛异常指标分布：（1）仅红细胞指数异常（MCV<82fl和/或MCH<27pg）39例，占21.91%；（2）仅血红蛋白电泳异常（HbA2异常或HbF异常或出现异常血红蛋白峰）90例，占50.56%；（3）红细胞指数、血红蛋白电泳均异常49例，占27.53%。另外，初筛检出异常血红蛋白3例，分别是2例HbE［基因型HBB:CD26(GAG>AAG)/N］、1例HbD［基因型HBB:CD121(GAA>CAA)/N］。
2.2　地贫基因分布特征
178例地贫初筛阳性的孕妇经基因检测（完成基因检测178例，无脱落），有67例（携带率67/178，37.64%）确诊为地贫，其中α-地贫41例，占61.19%，β-地贫26例，占38.81%。
228例地贫初筛阴性的孕妇自愿要求行地贫基因检测（完成基因检测228例，无脱落），检出地贫携带者14例（14/228），携带率6.14%，且均为α-地贫。见表1。
本研究共检测出α-地贫55例（55/81，67.90%），β-地贫26例（26/81，32.10%），α-地贫的携带率高于β-地贫。其中α-地贫基因型以--SEA/αα最多（17/55，30.91%），-α3.7/αα次之（15/55，27.27%），见表2；β-地贫基因型以CD17/N最多（10/26，38.46%），CD41-42/N次之（7/26，26.92%），见表3。
不同地贫基因型携带者红细胞指数比较见表4。
2.3　初筛指标对地贫基因确诊的诊断性能分析
单独使用红细胞指数（MCV/MCH）筛查的灵敏度最高，为89.55%，但特异度偏低，为55.86%。单独使用HbA2异常作为标准，特异度较高，为78.38%。采用“联合标准”（即任一指标异常即判阳性），其灵敏度高达95.52%，但特异度低至41.44%，导致大量假阳性。若采用“双重标准”，特异度升至92.79%，但灵敏度降至62.69%。见表4。
3　讨论
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有效防控地贫依赖于对地区人群基因携带状况和突变谱系的准确掌握[10-11]。地贫可致胎儿死亡，也可致儿童残疾[12]。虽然已有能够治愈地贫的基因疗法出现，但是这类治疗方法目前均处于临床试验阶段，其安全性和有效性尚需进一步验证。因此，地贫的防控管理应以加强健康宣传、强化预防干预为核心。而在高发地区开展地贫携带者筛査，并实施规模化人群预防干预计划，对降低地贫患儿出生率具有重要意义。
遵义地区筛查孕妇人群携带率4.32%（81/1 876），与既往贵州省报道（4%～5%）相近[1]。表明，遵义地区属地贫高发区。基于本研究数据估算，遵义地区筛查孕妇人群的地贫基因校正携带率7.1%（95% CI：5.6%～9.0%），高于既往贵州省报道数（4%～5%）[1]。提示遵义地区可能是贵州省内地贫负荷相对较重的区域，或与本研究样本来源、估算方法有关。这一发现强调在该地区加强地贫防控的必要性。值得注意的是，对于地贫初筛阴性且自愿行地贫基因诊断的228例孕妇中检出地贫携带14例，携带率6.14%（14/228）。目前地贫干预防控措施中，以往针对地贫筛查阳性人群的地贫基因型分布研究较丰富，而关于筛查阴性人群的地贫基因型分布研究相对匮乏。本研究采用MCV/MCH及血红蛋白电泳的初筛方案，其阴性预测值虽较高（约93.86%），但对于占相当比例的静止型或罕见型地贫，尤其是α-地贫静止型，其灵敏度不足。这部分携带者的红细胞参数常处于正常下限或临界值，血红蛋白电泳亦无典型改变，导致常规筛查易出现“假阴性”。因此，单纯依赖现有血液学指标截断值（如MCV<82fl、MCH<27pg）在遵义地区的适用性值得商榷。未来的研究可探索基于本地人群的MCV/MCH参考区间或调整截断值，或引入红细胞分布宽度等辅助指标以提高筛查灵敏度。对于有地贫家族史、不明原因贫血或配偶为已知携带者的高危孕妇，即便初筛阴性，也应考虑将高通量测序技术（如本研究使用的三代测序）作为一线或补充筛查手段，以实现更精准的携带者识别。表1漏诊基因型分析显示，漏诊病例几乎全部为静止型α-地贫（如-α3.7/αα、αααanti3.7，此类携带者的临床风险主要体现在婚配后的子代遗传风险。具体而言，首先，是相同类型携带者间的婚配风险。本研究漏诊的α-地贫静止型携带者（如-α3.7/αα）若与轻型α-地贫携带者（如--SEA/αα）婚配，其胎儿有25%概率为中间型α-地贫（--SEA/-α3.7，HbH病），需要长期随访甚至输血治疗。其次，是基因互作效应带来的复杂风险。α珠蛋白基因的轻微缺陷（如静止型）与β-地贫杂合子之间存在基因剂量补偿效应。α珠蛋白基因三联体携带者（如αααanti3.7/αα）若与β-地贫携带者婚配，可能增加胎儿中间型地贫（如αααanti3.7/αα合并CD17/N）的发生风险。同时本研究发现α同源重组的携带率高达20.00%（11/55），α-珠蛋白基因三联体系因16号染色体减数分裂时同源配对期间不等交换，即出现X、Y、Z同源盒不等交换所致，如αααanti3.7、αααanti4.22[13]。若同时携带其他α-地贫变异型，或其配偶携带β-地贫或其他α-地贫变异型，则可能增加中重型或重型地贫患儿的出生风险。本研究还发现高达24.69%（20/81）的罕见地贫基因携带率，且这些罕见地贫携带者多无血液学表型变化和血红蛋白电泳变化，用常规的血常规、血红蛋白电泳及α和β基因检测方法（23个位点）难以发现，容易导致中重型或重型地贫患儿的出生。因此，婚前检查、孕前检查应强调夫妇双筛查。从公共卫生角度看，遵义地区多民族混居的特点增加了不同基因型携带者婚配的概率，漏诊携带者的存在可能影响地贫防控。因此，加强孕前筛查的全覆盖、优化初筛截断值、推广三代测序在高危人群中的应用，不仅能降低漏诊率，更能从源头减少中重型地贫患儿的出生，对提高区域人口质量具有重要意义。
本研究共检测出α-地贫55例（55/81，67.90%），β-地贫26例（26/81，32.10%），α-地贫的携带率高于β-地贫。本研究中，最常见的α-地贫基因类型为--SEA/αα，其构成比为30.91%，其次是-α3.7/αα（27.27%）、αααanti3.7/αα（9.10%）、αCSα/αα（7.27%）、αWSα/αα（3.64%）及αααanti4.2/αα（3.64%），其他型别相对较少见；最常见的β-地贫基因类型为CD17/N最多，占38.46%，其次是CD41-42/N，占26.92%、IVS-II-654(C>T)/N，占11.54%，其他型别相对较少见。本研究发现的α-地贫和β-地贫的主要类型与张禾璇[14]、朱晓西[15]、刘兴梅[16]、伍莎莎[17]的研究一致。β-地贫的主要基因类型与咸宁、南宁、广东不同，咸宁以IVS-Ⅱ-654/N为主[18]，南宁、广东以CD41-42/N最多[19-20]。遵义地区地贫基因型分布与咸宁、南宁、广东等地存在差异，这种区域异质性与本地人群遗传结构相关。例如，遵义地区除汉族外也同时居住少数民族（如苗族），而不同民族的地贫基因携带率及基因型分布可能存在差异[7-9]。未来需扩大样本量进一步验证。另外，临床上还可见α-地贫合并β-地贫的患者，但本研究并未检出，推测与单中心设计、数据量少有关。
本研究的局限性之一在于，对初筛阴性人群的基因检测基于自愿原则，这部分志愿者可能存在地贫家族史、配偶为携带者或对自身血常规结果有疑虑等高危因素，可能导致其6.14%的携带率高于全体筛查阴性人群的真实水平。尽管如此，这一结果仍强烈提示常规筛查存在不可忽视的漏检可能。进一步分析遵义地区的基因型构成，其以--SEA/αα（α-地贫）、-α3.7/αα（α-地贫）为主的α-地贫谱系，与黔南州、黔东南州等地报道的--SEA/αα（α-地贫）、αCSα/αα为主的特征既有共性（--SEA缺失普遍存在），又存在细微差异[7-9]。遵义作为多民族聚居地，汉族与苗族、土家族等少数民族长期融合，可能导致不同于贵州省内其他地区的独特基因频率分布。例如，本研究中αααanti3.7/α α等三联体基因型占比不低，可能与特定人群的遗传背景有关。这种地域与民族融合背景下的基因型多样性，要求地贫防控策略必须具备“一地一策”甚至“一族一策”的精准性，不能完全照搬其他高发地区的经验。
本研究通过诊断性能分析发现，“联合标准”虽能最大程度地发现可疑携带者（灵敏度95.52%），但特异度低（41.44%），导致大量孕妇需进行昂贵且不必要的基因检测，增加医疗成本和孕妇的心理负担。若采用“双重标准”（即红细胞指数与HbA2均异常），虽能大幅提高基因检测效率，但会漏诊近四成的携带者，不符合公共卫生防控“普遍筛查、避免漏诊”的首要原则。因此，优化遵义地区地贫防控策略的关键，可能不在于调整单一的血液学截断值，而在于推广更高效、更经济的基因检测技术。例如，可探索将红细胞指数联合HbA2作为初筛，对初筛阳性者先进行低成本、高通量的靶向常见突变检测，若为阴性但临床仍高度怀疑者，再行第三代测序等全面检测，从而在成本与检出率间取得平衡。
本研究初步分析了民族与地贫基因携带率的关系，未发现汉族与苗族、土家族等主要民族间存在显著差异。这可能与样本量有限，尤其是少数民族样本量较小有关，也可能反映了遵义地区长期民族融合导致的基因交流。但值得注意的是，某些特定基因型（如α三联体）在特定民族中的分布仍需更大样本的研究确认。
综上所述，遵义地区孕妇地贫携带率较高，以α-地贫为主，主要基因型为--SEA/αα（α-地贫）、-α3.7/αα（α-地贫）、CD17/N（β-地贫）和CD41-42/N（β-地贫），且存在一定比例的初筛漏诊及罕见基因型。
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2026年第53卷第11期
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doi: 10.20043/j.cnki.MPM.202512450
  • 接收时间：2025-12-25
  • 首发时间：2026-11-02
  • 出版时间：2026-06-10
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  • 收稿日期：2025-12-25
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遵义市科技计划项目(遵市科合HZ字（2023）59号)
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    遵义市第一人民医院（遵义医科大学第三附属医院）妇产科，贵州 遵义 563000
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