高级检索
中华医学遗传学杂志
期刊首页
过刊列表
高级检索
稿件发表
• 血液遗传学专栏 •
ENGLISH ABSTRACT
广东省惠州市地区3种常见缺失型β-地中海贫血及其合并α-地中海贫血患者的血液学特征分析
官志扬
陈迪娜
钟泽艳
吴志勇
钟国兴
黄少慧
陈剑虹
作者及单位信息
·
DOI： 10.3760/cma.j.cn511374-20241013-00570
Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province
Guan Zhiyang
Chen Dina
Zhong Zeyan
Wu Zhiyong
Zhong Guoxing
Huang Shaohui
Chen Jianhong
Authors Info & Affiliations
Guan Zhiyang
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Chen Dina
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Zhong Zeyan
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Wu Zhiyong
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Zhong Guoxing
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Huang Shaohui
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
Chen Jianhong
Department of Medical Genetics and Prenatal Diagnosis, Huizhou First Maternal and Child Health Care Hospital, Huizhou, Guangdong 516007, China
·
DOI： 10.3760/cma.j.cn511374-20241013-00570
67
20
0
0
0
0
PDF下载
APP内阅读
摘要

目的分析广东省惠州市地区3种常见缺失型β-地中海贫血(简称"地贫")及其合并α-地贫患者的血液学特征。

方法选择2014年6月至2023年12月在惠州市第一妇幼保健院进行血红蛋白电泳检测，血红蛋白F(Hb F)≥5%的1 335例育龄患者作为研究对象。使用血细胞分析仪和全自动毛细管电泳仪检测患者的血液学指标，采用液相芯片和缺口PCR分别检测患者常规地贫基因和3种常见缺失型β-地贫基因，分析缺失型β-地贫患者的血液学特征。本研究已获得惠州市第一妇幼保健院医学伦理委员会的审查[批准号：20231107(B2)]。

结果①共检出384例常见的3种缺失型β-地贫患者，包括184例中国型 Gγ ＋( Aγδβ) 0、191例东南亚型遗传性持续性胎儿血红蛋白增高症(SEA-HPFH)和9例台湾型，总检出率为28.76%。②排除不符合标准的患者后余372例缺失型β-地贫患者，均表现为小细胞低色素性贫血，Hb F明显升高；除中国型 Gγ ＋( Aγδβ) 0患者的血红蛋白A 2(Hb A 2)正常或降低之外，其它2种患者的Hb A 2均有不同程度的升高；差异性比较结果显示各组间的Hb A 2和Hb F差异均有统计学意义( P<0.05)。③按基因变异类型将180例中国型 Gγ ＋( Aγδβ) 0杂合子患者分为3组，包括αα/αα，Chinese Gγ ＋( Aγδβ) 0/β N组(149例)、-α/αα，Chinese Gγ ＋( Aγδβ) 0/β N组(14例)和--/αα，Chinese Gγ ＋( Aγδβ) 0/β N组(17例)；将179例SEA-HPFH杂合子患者分为3组，包括αα/αα，SEA-HPFH/β N组(150例)、-α/αα，SEA-HPFH/β N组(12例)和--/αα，SEA-HPFH/β N组(17例)；差异性比较结果显示中国型 Gγ ＋( Aγδβ) 0合并α 0-地贫组的Hb F明显低于合并α ＋-地贫组以及不合并组(P<0.05)，SEA-HPFH合并α 0-地贫组的平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和Hb F明显低于合并α ＋-地贫组以及不合并组( P<0.05)。

结论上述研究成果不仅可增强临床医师对缺失型β-地贫及其合并α-地贫的鉴别能力，提高其遗传咨询水平，还能为制定缺失型β-地贫防控方案和开展优生优育提供数据支撑。

缺失型β-地中海贫血;合并α-地中海贫血;血液学特征;血红蛋白F
ABSTRACT

ObjectiveTo analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.

MethodsA total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].

Results① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05).

ConclusionThe above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.

Deletional β-thalassemia;Concomitant α-thalassemia;Hematological characteristics;Hemoglobin F
Chen Jianhong, Email: mocdef.labiamtoh2121nehchj
Copyright by Chinese Medical Association
No content published by the journals of Chinese Medical Association may be reproduced or abridged without authorization. Please do not use or copy the layout and design of the journals without permission.
All articles published represent the opinions of the authors, and do not reflect the official policy of the Chinese Medical Association or the Editorial Board, unless this is clearly specified.
引用本文

官志扬,陈迪娜,钟泽艳,等. 广东省惠州市地区3种常见缺失型β-地中海贫血及其合并α-地中海贫血患者的血液学特征分析[J]. 中华医学遗传学杂志,2025,42(02)：129-136.

DOI:10.3760/cma.j.cn511374-20241013-00570

PERMISSIONS

Request permissions for this article from CCC.

评价本文
*以上评分为匿名评价

版权归中华医学会所有。

未经授权，不得转载、摘编本刊文章，不得使用本刊的版式设计。

除非特别声明，本刊刊出的所有文章不代表中华医学会和本刊编委会的观点。

地中海贫血(简称"地贫")包含α-地贫与β-地贫，其中β-地贫主要由β-珠蛋白基因点突变所致，少数缺失型β-地贫由β-基因簇发生大片段缺失引起 [ 1 ]。我国常见的3种缺失型β-地贫包括东南亚型遗传性持续性胎儿血红蛋白增高症(Southeast Asian hereditary persistence of fetal hemoglobin，SEA-HPFH)、中国型 Gγ ＋( Aγδβ) 0和台湾型 [ 2 ]；当这3种缺失型β-地贫复合β-地贫时会导致中重型β-地贫的发生 [ 3 , 4 , 5 ]。在临床工作中，临床医师对上述缺失型β-地贫的血液学特征普遍缺乏清晰的认识 [ 6 , 7 ]，尤其难以辨别合并α-地贫的患者。目前尚未见缺失型β-地贫及其合并α-地贫的大样本血液学特征报道。现对广东省惠州市地区3种缺失型β-地贫及其合并α-地贫的血液学特征进行分析，为缺失型β-地贫的筛查与临床遗传咨询提供参考。现将研究结果报道如下。
试读结束，您可以通过登录机构账户或个人账户后获取全文阅读权限。
参考文献
[1]
Giardine BM , Joly P , Pissard S ,et al. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations[J]. Nucleic Acids Res, 2021,49(D1):D1192-D1196. DOI: 10.1093/nar/gkaa959 .
返回引文位置Google Scholar
百度学术
万方数据
[2]
Jiang F , Zuo LD , Li DZ ,et al. Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125，661 families of greater Guangzhou area, the metropolis of southern China[J]. BMC Med Genet, 2020,21(1):43. DOI: 10.1186/s12881-020-0981-x .
返回引文位置Google Scholar
百度学术
万方数据
[3]
Qian H , Li WF , Lin XH ,et al. αthalassemia deletion [ －SEA (Southeast Asian) ] and a compound heterozygote for the Chinese G γ ＋ ( A γδβ) 0 /βCD17thalassemia mutation: a case report [J]. Mol Med Rep, 2023,27(6):112. DOI: 10.3892/mmr.2023.12999 .
返回引文位置Google Scholar
百度学术
万方数据
[4]
熊永红，李頔，胡莉，等. 贵州地区57例遗传性持续性胎儿血红蛋白增高症遗传因素分析[J]. 国际检验医学杂志， 2021,42(6):666-670. DOI: 10.3969/j.issn.1673-4130.2021.06.007 .
返回引文位置Google Scholar
百度学术
万方数据
Xiong YH , Li D , Hu L ,et al. Analysis of genetic factors of 57 cases with hereditary persistence of fetal hemoglobin in Guizhou region[J]. Int J Lab Med, 2021,42(6):-666. 670DOI: 10.3969/j.issn.1673-4130.2021.06.007 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[5]
杜丽，秦丹卿，刘玲，等. 台湾型缺失β地中海贫血的基因诊断、产前诊断和植入前遗传学诊断[J]. 中国实验血液学杂志， 2019,27(5):1585-1591. DOI: 10.19746/j.cnki.issn1009-2137.2019.05.034 .
返回引文位置Google Scholar
百度学术
万方数据
Du L , Qin DQ , Liu L ,et al. Genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis of Taiwanese deletion β-Thalassemia[J]. J Exp Hematol, 2019,27(5):1585-1591. DOI: 10.19746/j.cnki.issn.1009-2137.2019.05.034 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[6]
王继成，姚翠泽，黄演林，等. 中国人3种最常见缺失型β地中海贫血的鉴别诊断[J]. 中国实验血液学杂志， 2021,29(4):1247-1250. DOI: 10.19746/j.cnki.issn.1009-2137.2021.04.035 .
返回引文位置Google Scholar
百度学术
万方数据
Wang JC , Yao CZ , Huang YL ,et al. Differential diagnosis of three commonest deletion β-Thalassemia in Chinese[J]. J Exp Hematol, 2021,29(4):1247-1250. DOI: 10.19746/j.cnki.issn.1009-2137.2021.04.035 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[7]
鞠爱萍，李娜，林铿，等. 常见δβ地中海贫血/HPFH的分子流行病学特征及鉴别诊断[J]. 中国实验血液学杂志， 2022,30(4):1182-1187. DOI: 10.19746/j.cnki.issn.1009-2137.2022.04.032 .
返回引文位置Google Scholar
百度学术
万方数据
Ju AP , Li N , Lin K ,et al. Molecular epidemiological characteristics and differential diagnosis of common δβ-Thalassemia/HPFH[J]. J Exp Hematol, 2022,30(4):1182-1187. DOI: 10.19746/j.cnki.issn.1009-2137.2022.04.032 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[8]
Singha K , Tepakhan W , Yamsri S ,et al. A large cohort of deletional high hemoglobin F determinants in Thailand: a molecular revisited and identification of a novel mutation[J]. Clin Chim Acta, 2023,551:117615. DOI: 10.1016/j.cca.2023.117615 .
返回引文位置Google Scholar
百度学术
万方数据
[9]
中华医学会医学遗传学分会遗传病临床实践指南撰写组. β-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志， 2020,37(3):243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004 .
返回引文位置Google Scholar
百度学术
万方数据
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association. Clinical practice guidelines for beta-thalassemia[J]. Chin J Med Genet, 2020,37(3):243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[10]
Chen MH , Zhang M , Chen LJ ,et al. Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: a 14-year single-center experience[J]. J Clin Lab Anal, 2022,36(2):e24181. DOI: 10.1002/jcla.24181 .
返回引文位置Google Scholar
百度学术
万方数据
[11]
He S , Wei Y , Lin L ,et al. The prevalence and molecular characterization of (δβ) 0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population [J]. J Clin Lab Anal, 2018,32(3):e22304. DOI: 10.1002/jcla.22304 .
返回引文位置Google Scholar
百度学术
万方数据
[12]
李育敏，蔡钦泉，覃俊龙，等. 3种β缺失型地中海贫血基因型与表型分析[J]. 检验医学， 2021,36(6):642-645. DOI: 10.3969/j.issn.1673-8640.2021.06.014 .
返回引文位置Google Scholar
百度学术
万方数据
Li YM , Cai QQ , Qin JL ,et al. Genotype and phenotype analysis of three deletion β-thalassemia[J]. Lab Med, 2021,36(6):642-645. DOI: 10.3969/j.issn.1673-8640.2021.06.014 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[13]
陈迪娜，官志扬，钟泽艳，等. 广东惠州人群αβ复合型地中海贫血基因型与表型的相关性分析[J]. 中国实验血液学杂志， 2023,31(4):1133-1137. DOI: 10.19746/j.cnki.issn1009-2137.2023.04.031 .
返回引文位置Google Scholar
百度学术
万方数据
Chen DN , Guan ZY , Zhong ZY ,et al. Association analysis between genotype and phenotype of α，β-Thalassaemia carriers in Huizhou area of Guangdong province[J]. J Exp Hemat ol , 2023,31(4):1133-1137. DOI: 10.19746/j.cnki.issn.1009-2137.2023.04.031 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[14]
Xian J , Wang Y , He J ,et al. Molecular epidemiology and hematologic characterization of Thalassemia in Guangdong province, Southern China[J]. Clin Appl Thromb Hemost, 2022,28:1-10. DOI: 10.1177/10760296221119807 .
返回引文位置Google Scholar
百度学术
万方数据
[15]
官凌燕，吴志勇，邱佩绵. 惠州地区血红蛋白E病患者的基因型与血液学特征分析[J]. 分子诊断与治疗杂志， 2022,14(11):1963-1967. DOI: 10.19930/j.cnki.jmdt.2022.11.021 .
返回引文位置Google Scholar
百度学术
万方数据
Guan LY , Wu ZY , Qiu PM . Analysis of genotype and hematological characteristics of patients with hemoglobin E disease in Huizhou area[J]. J Mol Diagn Ther, 2022,14(11):1963-1967. DOI: 10.19930/j.cnki.jmdt.2022.11.021 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[16]
李彩云，张健，曹颖丽，等. 郴州地区罕见地中海贫血基因突变及血液学特征的分析[J]. 中华医学遗传学杂志， 2024,41(6):708-714. DOI: 10.3760/cma.j.cn511374-20230210-00065 .
返回引文位置Google Scholar
百度学术
万方数据
Li CY , Zhang J , Cao YL ,et al. Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenz hou region of Hunan Province [J]. Chin J Med Genet, 2024,41(6):708-714. DOI: 10.3760/cma.j.cn511374-20230210-00065 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[17]
钟泽艳，陈剑虹，陈迪娜，等. 罕见型β基因簇大片段纯合缺失病例的诊断及临床表型分析[J]. 中华医学遗传学杂志， 2020,37(12):1331-1335. DOI: 10.3760/cma.j.cn511374-20191121-00599 .
返回引文位置Google Scholar
百度学术
万方数据
Zhong ZY , Chen JH , Chen DN ,et al. Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster[J]. Chin J Med Genet, 2020,37(12):1331-1335. DOI: 10.3760/cma.j.cn511374-20191121-00599 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[18]
张强，张艺佳，徐惠玲，等. 一例罕见的Chinese Gγ(Aγδβ)0-thal纯合子的基因检测及临床表型分析[J]. 中华医学遗传学杂志， 2018,35(4):553-556. DOI: 10.3760/cma.j.issn.1003-9406.2018.04.021 .
返回引文位置Google Scholar
百度学术
万方数据
Zhang Q , Zhang YJ , Xu HL ,et al. Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ (Aγδβ)0-thal deletion[J]. Chin J Med Genet, 2018,35(4):553-556. DOI: 10.3760/cma.j.issn.1003-9406.2018.04.021 .
Goto CitationGoogle Scholar
Baidu Scholar
Wanfang Data
[19]
Haghpanah S , Vahdati S , <x>Karim</x> <x>i</x> M . Comparison of quality of life in patients with β-Thalassemia intermedia and β-Thalassemia major in Southern Iran[J]. Hemoglobin, 2017,41(3):169-174. DOI: 10.1080/03630269.2017.1340307 .
返回引文位置Google Scholar
百度学术
万方数据
[20]
Du L , Qin DQ , Wang JC ,et al. Genetic and phenotypic analysis of a rare asymptomatic case of a homozygous Chinese G γ ＋ ( A γδβ) 0 -thalassemia deletion in a Chinese family [J]. Clin Biochem, 2020,76:11-16. DOI: 10.1016/j.clinbiochem.2019.11.003 .
返回引文位置Google Scholar
百度学术
万方数据
备注信息
A
陈剑虹，Email： mocdef.labiamtoh2121nehchj
B

官志扬：实验设计、数据分析、论文撰写、经费支持；陈迪娜：统计分析；钟泽艳：论文修改、经费支持；吴志勇、钟国兴、黄少慧：实验操作、数据采集、随访；陈剑虹：论文审阅、经费支持

C
所有作者均声明不存在利益冲突
D
广东省医学科研基金 (A2024278)
惠州市科技计划（医疗卫生）项目 (2023CZ010108)
惠州市科技计划（医疗卫生）项目 (2024CZ010137)
惠州市第一妇幼保健院院内课题 (YN2024003)
评论 （0条）
注册
登录
时间排序
暂无评论，发表第一条评论抢沙发
最新推荐
更多
中国广东人群δ地中海贫血基因谱和血液学表型研究
陈晓俊 等
中华检验医学杂志 2024,47(01)
郴州地区罕见地中海贫血基因突变及血液学特征的分析
李彩云 等
中华医学遗传学杂志 2024,41(06)
中国输血依赖型β地中海贫血诊断与治疗指南（2022年版）
中华医学会血液学分会红细胞疾病（贫血）学组
中华血液学杂志 2022,43(11)
河南省83例β-地中海贫血基因携带者及患者的基因型与血液学特征分析
王玮琳 等
中华医学遗传学杂志 2022,39(07)
MedAI助手（体验版）
文档即答
智问智答
机器翻译
回答内容由人工智能生成，我社无法保证其准确性和完整性，该生成内容不代表我们的态度或观点，仅供参考。
生成快照
文献快照

你好，我可以帮助您更好的了解本文，请向我提问您关注的问题。

0/2000

《中华医学会杂志社用户协议》 | 《隐私政策》

《SparkDesk 用户协议》 | 《SparkDesk 隐私政策》

网信算备340104764864601230055号 | 网信算备340104726288401230013号

技术支持：

历史对话
本文全部
还没有聊天记录
设置
模式
纯净模式沉浸模式
字号
小中大