Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China
Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China. Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may hav...
Published in: | Asian Pacific Journal of Tropical Medicine |
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Wolters Kluwer Medknow Publications
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Online Access: | https://doi.org/10.4103/1995-7645.272483 https://doaj.org/article/ebaebaf523aa4d38b7e14e6ed596bc3b |
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ftdoajarticles:oai:doaj.org/article:ebaebaf523aa4d38b7e14e6ed596bc3b 2023-05-15T15:09:49+02:00 Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China Chao Liang Xue-yin Chen Xue Gao Hong-jian Chen Ying-xia Jin Yao Zhou Ming-hong Li Wen-cong Wang Wei-ying Lu Yuan-hua Huang Jun Wang Qi Li Yan-lin Ma 2019-01-01T00:00:00Z https://doi.org/10.4103/1995-7645.272483 https://doaj.org/article/ebaebaf523aa4d38b7e14e6ed596bc3b EN eng Wolters Kluwer Medknow Publications http://www.apjtm.org/article.asp?issn=1995-7645;year=2019;volume=12;issue=12;spage=537;epage=544;aulast=Liang https://doaj.org/toc/2352-4146 2352-4146 doi:10.4103/1995-7645.272483 https://doaj.org/article/ebaebaf523aa4d38b7e14e6ed596bc3b Asian Pacific Journal of Tropical Medicine, Vol 12, Iss 12, Pp 537-544 (2019) thalassemia prenatal diagnosis genetic diagnosis amniotic fluid genetic counseling Arctic medicine. Tropical medicine RC955-962 article 2019 ftdoajarticles https://doi.org/10.4103/1995-7645.272483 2022-12-31T10:13:44Z Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China. Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α- and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42 (–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas. Article in Journal/Newspaper Arctic Directory of Open Access Journals: DOAJ Articles Arctic Asian Pacific Journal of Tropical Medicine 12 12 537 |
institution |
Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
thalassemia prenatal diagnosis genetic diagnosis amniotic fluid genetic counseling Arctic medicine. Tropical medicine RC955-962 |
spellingShingle |
thalassemia prenatal diagnosis genetic diagnosis amniotic fluid genetic counseling Arctic medicine. Tropical medicine RC955-962 Chao Liang Xue-yin Chen Xue Gao Hong-jian Chen Ying-xia Jin Yao Zhou Ming-hong Li Wen-cong Wang Wei-ying Lu Yuan-hua Huang Jun Wang Qi Li Yan-lin Ma Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
topic_facet |
thalassemia prenatal diagnosis genetic diagnosis amniotic fluid genetic counseling Arctic medicine. Tropical medicine RC955-962 |
description |
Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China. Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α- and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42 (–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas. |
format |
Article in Journal/Newspaper |
author |
Chao Liang Xue-yin Chen Xue Gao Hong-jian Chen Ying-xia Jin Yao Zhou Ming-hong Li Wen-cong Wang Wei-ying Lu Yuan-hua Huang Jun Wang Qi Li Yan-lin Ma |
author_facet |
Chao Liang Xue-yin Chen Xue Gao Hong-jian Chen Ying-xia Jin Yao Zhou Ming-hong Li Wen-cong Wang Wei-ying Lu Yuan-hua Huang Jun Wang Qi Li Yan-lin Ma |
author_sort |
Chao Liang |
title |
Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
title_short |
Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
title_full |
Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
title_fullStr |
Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
title_full_unstemmed |
Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China |
title_sort |
spectrum of thalassemia mutations in fetuses of han and li ethinicities in hainan province, china |
publisher |
Wolters Kluwer Medknow Publications |
publishDate |
2019 |
url |
https://doi.org/10.4103/1995-7645.272483 https://doaj.org/article/ebaebaf523aa4d38b7e14e6ed596bc3b |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic |
genre_facet |
Arctic |
op_source |
Asian Pacific Journal of Tropical Medicine, Vol 12, Iss 12, Pp 537-544 (2019) |
op_relation |
http://www.apjtm.org/article.asp?issn=1995-7645;year=2019;volume=12;issue=12;spage=537;epage=544;aulast=Liang https://doaj.org/toc/2352-4146 2352-4146 doi:10.4103/1995-7645.272483 https://doaj.org/article/ebaebaf523aa4d38b7e14e6ed596bc3b |
op_doi |
https://doi.org/10.4103/1995-7645.272483 |
container_title |
Asian Pacific Journal of Tropical Medicine |
container_volume |
12 |
container_issue |
12 |
container_start_page |
537 |
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1766340931041099776 |