Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis
Objective: To evaluate the value of next-generation sequencing (NGS) in the prevention and management of thalassemia. Methods: A systematic search was performed in eight databases including China Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journals D...
Published in: | Asian Pacific Journal of Tropical Medicine |
---|---|
Main Authors: | , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2023
|
Subjects: | |
Online Access: | https://doi.org/10.4103/1995-7645.370147 https://doaj.org/article/61190cfabd904fea8c9c58162d8ac3e4 |
id |
ftdoajarticles:oai:doaj.org/article:61190cfabd904fea8c9c58162d8ac3e4 |
---|---|
record_format |
openpolar |
spelling |
ftdoajarticles:oai:doaj.org/article:61190cfabd904fea8c9c58162d8ac3e4 2023-11-12T04:13:09+01:00 Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis Xingyi Fang Yi Gong Yanlin Ma Yuanhua Huang 2023-01-01T00:00:00Z https://doi.org/10.4103/1995-7645.370147 https://doaj.org/article/61190cfabd904fea8c9c58162d8ac3e4 EN eng Wolters Kluwer Medknow Publications http://www.apjtm.org/article.asp?issn=1995-7645;year=2023;volume=16;issue=2;spage=51;epage=57;aulast=Fang https://doaj.org/toc/2352-4146 2352-4146 doi:10.4103/1995-7645.370147 https://doaj.org/article/61190cfabd904fea8c9c58162d8ac3e4 Asian Pacific Journal of Tropical Medicine, Vol 16, Iss 2, Pp 51-57 (2023) thalassaemia next-generation sequencing meta-analysis Arctic medicine. Tropical medicine RC955-962 article 2023 ftdoajarticles https://doi.org/10.4103/1995-7645.370147 2023-10-29T00:38:43Z Objective: To evaluate the value of next-generation sequencing (NGS) in the prevention and management of thalassemia. Methods: A systematic search was performed in eight databases including China Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journals Database, Wanfang database, PubMed, EMBASE, Web of Science, and Cochrane Library from the inception to 1 June 2022. Stata 17.0 and Review Manager 5.4 were used for the meta-analysis. Results: Nine studies containing 14794 participants were included in the meta-analysis. Compared with the routine genetic testing (including Gap-PCR and reverse dot blot), NGS had higher detection rates in screening thalassemia (RR 1.22, 95% CI 1.13-1.31, P<0.01), particularly for the α-thalassaemia mutation carriers (RR 1.24, 95% CI 1.07-1.44, P<0.01). However, no significant difference was found in the screening of β-thalassemia (RR 1.10, 95% CI 0.99-1.23, P>0.05). Conclusions: Compared with routine genetic testing, NGS had a higher detection rate in general, particularly in the detection of α-thalassemia. Article in Journal/Newspaper Arctic Directory of Open Access Journals: DOAJ Articles Asian Pacific Journal of Tropical Medicine 16 2 51 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
thalassaemia next-generation sequencing meta-analysis Arctic medicine. Tropical medicine RC955-962 |
spellingShingle |
thalassaemia next-generation sequencing meta-analysis Arctic medicine. Tropical medicine RC955-962 Xingyi Fang Yi Gong Yanlin Ma Yuanhua Huang Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
topic_facet |
thalassaemia next-generation sequencing meta-analysis Arctic medicine. Tropical medicine RC955-962 |
description |
Objective: To evaluate the value of next-generation sequencing (NGS) in the prevention and management of thalassemia. Methods: A systematic search was performed in eight databases including China Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journals Database, Wanfang database, PubMed, EMBASE, Web of Science, and Cochrane Library from the inception to 1 June 2022. Stata 17.0 and Review Manager 5.4 were used for the meta-analysis. Results: Nine studies containing 14794 participants were included in the meta-analysis. Compared with the routine genetic testing (including Gap-PCR and reverse dot blot), NGS had higher detection rates in screening thalassemia (RR 1.22, 95% CI 1.13-1.31, P<0.01), particularly for the α-thalassaemia mutation carriers (RR 1.24, 95% CI 1.07-1.44, P<0.01). However, no significant difference was found in the screening of β-thalassemia (RR 1.10, 95% CI 0.99-1.23, P>0.05). Conclusions: Compared with routine genetic testing, NGS had a higher detection rate in general, particularly in the detection of α-thalassemia. |
format |
Article in Journal/Newspaper |
author |
Xingyi Fang Yi Gong Yanlin Ma Yuanhua Huang |
author_facet |
Xingyi Fang Yi Gong Yanlin Ma Yuanhua Huang |
author_sort |
Xingyi Fang |
title |
Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
title_short |
Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
title_full |
Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
title_fullStr |
Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
title_full_unstemmed |
Application of next-generation sequencing in thalassemia screening: A systematic review and meta-analysis |
title_sort |
application of next-generation sequencing in thalassemia screening: a systematic review and meta-analysis |
publisher |
Wolters Kluwer Medknow Publications |
publishDate |
2023 |
url |
https://doi.org/10.4103/1995-7645.370147 https://doaj.org/article/61190cfabd904fea8c9c58162d8ac3e4 |
genre |
Arctic |
genre_facet |
Arctic |
op_source |
Asian Pacific Journal of Tropical Medicine, Vol 16, Iss 2, Pp 51-57 (2023) |
op_relation |
http://www.apjtm.org/article.asp?issn=1995-7645;year=2023;volume=16;issue=2;spage=51;epage=57;aulast=Fang https://doaj.org/toc/2352-4146 2352-4146 doi:10.4103/1995-7645.370147 https://doaj.org/article/61190cfabd904fea8c9c58162d8ac3e4 |
op_doi |
https://doi.org/10.4103/1995-7645.370147 |
container_title |
Asian Pacific Journal of Tropical Medicine |
container_volume |
16 |
container_issue |
2 |
container_start_page |
51 |
_version_ |
1782331304197488640 |