Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project
Background Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples. Methods and results A total of 22,098 peripheral blood samples were collected from 11,049 potentia...
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| creator | Zheng, Xiujie Bao, Yantao Wu, Qunyan Yao, Fang Su, Jindi Yang, Yuankai Liu, Zhiqiang Duan, Shan |
| description | Background
Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples.
Methods and results
A total of 22,098 peripheral blood samples were collected from 11,049 potentially at-risk couples of childbearing age from Shenzhen. Thalassemia mutations were determined by PCR-based flow-through hybridization. The results identified 45.02% of the participants (9948 out of 22,098) as harboring globin gene mutations, distributed into 18 α-thalassemia alleles detected in 71.48% (7111 out of 9948) and 15 β-thalassemia alleles detected in 32.68% (3252 out of 9948) of all mutant individuals, among which 415 individuals carried both α- and β-thalassemia alleles. The most frequent phenotypes for α-globin variations were --
SEA
/αα (63.37%), -α
3.7
/αα (18.66%), and -α
4.2
/αα (7.31%), and those for β-globin variations were β
41–42
/β
N
(34.96%), β
654
/β
N
(28.11%), and β
17
/β
N
(13.84%). A total of 970 high-risk couples who could possibly give birth to offspring with thalassemia intermedia or major were identified. In addition, the hematological indices were compared among thalassemia genotypes. Significant differences in MCH, MCV, Hb A, and Hb A2 levels among α-thalassemia minor (α+), trait (α0), and intermediate phenotypes (
P
|
| doi_str_mv | 10.1007/s11033-023-09091-z |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2916407550</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2916407550</sourcerecordid><originalsourceid>FETCH-LOGICAL-c326t-34739c409ddbd68c875efcfa84275204ec99a4c799d003566f328927ca221fd83</originalsourceid><addsrcrecordid>eNp9kU2LFDEQhoMo7rj6BzxIwIuX1spH58ObLLq7sOBFzyGTrp7N0NNpk-6B2V9vZmZV2IOHEKh63reKegl5y-AjA9CfCmMgRAO8PguWNQ_PyIq1WjTSavOcrEAAa6Rp2QV5VcoWACTT7UtyIQwXSiizIvtrHHGOgeIUO9zFNKTNgaaezvd-8KXUkqdxpCEt04Dl2An3cejW6HMcN9Rv8DNNe8xU0UOtnQj_RD1j3uM4xzTSKacthvk1edH7oeCbx_-S_Pz29cfVTXP3_fr26stdEwRXcyOkFjZIsF237pQJRrfYh94byXXLQWKw1sugre0ARKtUL7ixXAfPOes7Iy7Jh7NvnftrwTK7XSwBh8GPmJbiuGVKgm5bqOj7J-g2LXms250orkAJXSl-pkJOpWTs3ZTjzueDY-COqbhzKq6m4k6puIcqevdovax32P2V_ImhAuIMlOl4Vcz_Zv_H9jfGOpio</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2916260637</pqid></control><display><type>article</type><title>Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project</title><source>SpringerNature Journals</source><creator>Zheng, Xiujie ; Bao, Yantao ; Wu, Qunyan ; Yao, Fang ; Su, Jindi ; Yang, Yuankai ; Liu, Zhiqiang ; Duan, Shan</creator><creatorcontrib>Zheng, Xiujie ; Bao, Yantao ; Wu, Qunyan ; Yao, Fang ; Su, Jindi ; Yang, Yuankai ; Liu, Zhiqiang ; Duan, Shan</creatorcontrib><description>Background
Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples.
Methods and results
A total of 22,098 peripheral blood samples were collected from 11,049 potentially at-risk couples of childbearing age from Shenzhen. Thalassemia mutations were determined by PCR-based flow-through hybridization. The results identified 45.02% of the participants (9948 out of 22,098) as harboring globin gene mutations, distributed into 18 α-thalassemia alleles detected in 71.48% (7111 out of 9948) and 15 β-thalassemia alleles detected in 32.68% (3252 out of 9948) of all mutant individuals, among which 415 individuals carried both α- and β-thalassemia alleles. The most frequent phenotypes for α-globin variations were --
SEA
/αα (63.37%), -α
3.7
/αα (18.66%), and -α
4.2
/αα (7.31%), and those for β-globin variations were β
41–42
/β
N
(34.96%), β
654
/β
N
(28.11%), and β
17
/β
N
(13.84%). A total of 970 high-risk couples who could possibly give birth to offspring with thalassemia intermedia or major were identified. In addition, the hematological indices were compared among thalassemia genotypes. Significant differences in MCH, MCV, Hb A, and Hb A2 levels among α-thalassemia minor (α+), trait (α0), and intermediate phenotypes (
P
< 0.05) and between β
E
/β
N
and the other β-thalassemia phenotypes (
P
< 0.05) were found. Moreover, GAP-PCR and next-generation sequencing further identified 42 rare mutations, 13 of which were first reported in the Chinese population. A novel mutation in the β-globin gene (HBB: c.246 C > A (rs145669504)) was also discovered.
Conclusions
This study presented a comprehensive analysis of thalassemia variations in a population from Shenzhen and may offer valuable insights for thalassemia control and intervention strategies in this area.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-023-09091-z</identifier><identifier>PMID: 38236368</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Alleles ; Animal Anatomy ; Animal Biochemistry ; Biomedical and Life Sciences ; Blood diseases ; Epidemiology ; Genotypes ; Histology ; Hybridization ; Life Sciences ; Morphology ; Mutation ; Next-generation sequencing ; Original Article ; Peripheral blood ; Phenotypes ; Phenotypic variations ; Thalassemia</subject><ispartof>Molecular biology reports, 2024-12, Vol.51 (1), p.138-138, Article 138</ispartof><rights>The Author(s), under exclusive licence to Springer Nature B.V. 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Nature B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c326t-34739c409ddbd68c875efcfa84275204ec99a4c799d003566f328927ca221fd83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-023-09091-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-023-09091-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38236368$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zheng, Xiujie</creatorcontrib><creatorcontrib>Bao, Yantao</creatorcontrib><creatorcontrib>Wu, Qunyan</creatorcontrib><creatorcontrib>Yao, Fang</creatorcontrib><creatorcontrib>Su, Jindi</creatorcontrib><creatorcontrib>Yang, Yuankai</creatorcontrib><creatorcontrib>Liu, Zhiqiang</creatorcontrib><creatorcontrib>Duan, Shan</creatorcontrib><title>Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Background
Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples.
Methods and results
A total of 22,098 peripheral blood samples were collected from 11,049 potentially at-risk couples of childbearing age from Shenzhen. Thalassemia mutations were determined by PCR-based flow-through hybridization. The results identified 45.02% of the participants (9948 out of 22,098) as harboring globin gene mutations, distributed into 18 α-thalassemia alleles detected in 71.48% (7111 out of 9948) and 15 β-thalassemia alleles detected in 32.68% (3252 out of 9948) of all mutant individuals, among which 415 individuals carried both α- and β-thalassemia alleles. The most frequent phenotypes for α-globin variations were --
SEA
/αα (63.37%), -α
3.7
/αα (18.66%), and -α
4.2
/αα (7.31%), and those for β-globin variations were β
41–42
/β
N
(34.96%), β
654
/β
N
(28.11%), and β
17
/β
N
(13.84%). A total of 970 high-risk couples who could possibly give birth to offspring with thalassemia intermedia or major were identified. In addition, the hematological indices were compared among thalassemia genotypes. Significant differences in MCH, MCV, Hb A, and Hb A2 levels among α-thalassemia minor (α+), trait (α0), and intermediate phenotypes (
P
< 0.05) and between β
E
/β
N
and the other β-thalassemia phenotypes (
P
< 0.05) were found. Moreover, GAP-PCR and next-generation sequencing further identified 42 rare mutations, 13 of which were first reported in the Chinese population. A novel mutation in the β-globin gene (HBB: c.246 C > A (rs145669504)) was also discovered.
Conclusions
This study presented a comprehensive analysis of thalassemia variations in a population from Shenzhen and may offer valuable insights for thalassemia control and intervention strategies in this area.</description><subject>Alleles</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Blood diseases</subject><subject>Epidemiology</subject><subject>Genotypes</subject><subject>Histology</subject><subject>Hybridization</subject><subject>Life Sciences</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Next-generation sequencing</subject><subject>Original Article</subject><subject>Peripheral blood</subject><subject>Phenotypes</subject><subject>Phenotypic variations</subject><subject>Thalassemia</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kU2LFDEQhoMo7rj6BzxIwIuX1spH58ObLLq7sOBFzyGTrp7N0NNpk-6B2V9vZmZV2IOHEKh63reKegl5y-AjA9CfCmMgRAO8PguWNQ_PyIq1WjTSavOcrEAAa6Rp2QV5VcoWACTT7UtyIQwXSiizIvtrHHGOgeIUO9zFNKTNgaaezvd-8KXUkqdxpCEt04Dl2An3cejW6HMcN9Rv8DNNe8xU0UOtnQj_RD1j3uM4xzTSKacthvk1edH7oeCbx_-S_Pz29cfVTXP3_fr26stdEwRXcyOkFjZIsF237pQJRrfYh94byXXLQWKw1sugre0ARKtUL7ixXAfPOes7Iy7Jh7NvnftrwTK7XSwBh8GPmJbiuGVKgm5bqOj7J-g2LXms250orkAJXSl-pkJOpWTs3ZTjzueDY-COqbhzKq6m4k6puIcqevdovax32P2V_ImhAuIMlOl4Vcz_Zv_H9jfGOpio</recordid><startdate>20241201</startdate><enddate>20241201</enddate><creator>Zheng, Xiujie</creator><creator>Bao, Yantao</creator><creator>Wu, Qunyan</creator><creator>Yao, Fang</creator><creator>Su, Jindi</creator><creator>Yang, Yuankai</creator><creator>Liu, Zhiqiang</creator><creator>Duan, Shan</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20241201</creationdate><title>Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project</title><author>Zheng, Xiujie ; Bao, Yantao ; Wu, Qunyan ; Yao, Fang ; Su, Jindi ; Yang, Yuankai ; Liu, Zhiqiang ; Duan, Shan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-34739c409ddbd68c875efcfa84275204ec99a4c799d003566f328927ca221fd83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Alleles</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Blood diseases</topic><topic>Epidemiology</topic><topic>Genotypes</topic><topic>Histology</topic><topic>Hybridization</topic><topic>Life Sciences</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Next-generation sequencing</topic><topic>Original Article</topic><topic>Peripheral blood</topic><topic>Phenotypes</topic><topic>Phenotypic variations</topic><topic>Thalassemia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zheng, Xiujie</creatorcontrib><creatorcontrib>Bao, Yantao</creatorcontrib><creatorcontrib>Wu, Qunyan</creatorcontrib><creatorcontrib>Yao, Fang</creatorcontrib><creatorcontrib>Su, Jindi</creatorcontrib><creatorcontrib>Yang, Yuankai</creatorcontrib><creatorcontrib>Liu, Zhiqiang</creatorcontrib><creatorcontrib>Duan, Shan</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zheng, Xiujie</au><au>Bao, Yantao</au><au>Wu, Qunyan</au><au>Yao, Fang</au><au>Su, Jindi</au><au>Yang, Yuankai</au><au>Liu, Zhiqiang</au><au>Duan, Shan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2024-12-01</date><risdate>2024</risdate><volume>51</volume><issue>1</issue><spage>138</spage><epage>138</epage><pages>138-138</pages><artnum>138</artnum><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>Background
Shenzhen is one of the most populated metropolises in southern China where thalassemia is highly prevalent. The prevention of thalassemia inheritance is an ambition of child-bearing couples.
Methods and results
A total of 22,098 peripheral blood samples were collected from 11,049 potentially at-risk couples of childbearing age from Shenzhen. Thalassemia mutations were determined by PCR-based flow-through hybridization. The results identified 45.02% of the participants (9948 out of 22,098) as harboring globin gene mutations, distributed into 18 α-thalassemia alleles detected in 71.48% (7111 out of 9948) and 15 β-thalassemia alleles detected in 32.68% (3252 out of 9948) of all mutant individuals, among which 415 individuals carried both α- and β-thalassemia alleles. The most frequent phenotypes for α-globin variations were --
SEA
/αα (63.37%), -α
3.7
/αα (18.66%), and -α
4.2
/αα (7.31%), and those for β-globin variations were β
41–42
/β
N
(34.96%), β
654
/β
N
(28.11%), and β
17
/β
N
(13.84%). A total of 970 high-risk couples who could possibly give birth to offspring with thalassemia intermedia or major were identified. In addition, the hematological indices were compared among thalassemia genotypes. Significant differences in MCH, MCV, Hb A, and Hb A2 levels among α-thalassemia minor (α+), trait (α0), and intermediate phenotypes (
P
< 0.05) and between β
E
/β
N
and the other β-thalassemia phenotypes (
P
< 0.05) were found. Moreover, GAP-PCR and next-generation sequencing further identified 42 rare mutations, 13 of which were first reported in the Chinese population. A novel mutation in the β-globin gene (HBB: c.246 C > A (rs145669504)) was also discovered.
Conclusions
This study presented a comprehensive analysis of thalassemia variations in a population from Shenzhen and may offer valuable insights for thalassemia control and intervention strategies in this area.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>38236368</pmid><doi>10.1007/s11033-023-09091-z</doi><tpages>1</tpages></addata></record> |
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| subjects | Alleles Animal Anatomy Animal Biochemistry Biomedical and Life Sciences Blood diseases Epidemiology Genotypes Histology Hybridization Life Sciences Morphology Mutation Next-generation sequencing Original Article Peripheral blood Phenotypes Phenotypic variations Thalassemia |
| title | Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project |
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