Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review
Thalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder. Today, many clinical and research laboratories have widely utilized next-generation sequencing (NGS) t...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-09-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1015769/full |
| _version_ | 1811258008721686528 |
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| author | Syahirah Amnani Suhaimi Ihsan Nazurah Zulkipli Hazim Ghani Mas Rina Wati Abdul-Hamid |
| author_facet | Syahirah Amnani Suhaimi Ihsan Nazurah Zulkipli Hazim Ghani Mas Rina Wati Abdul-Hamid |
| author_sort | Syahirah Amnani Suhaimi |
| collection | DOAJ |
| description | Thalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder. Today, many clinical and research laboratories have widely utilized next-generation sequencing (NGS) technologies to identify diseases, from germline and somatic disorders to infectious diseases. Yet, NGS application in thalassemia is limited and has just recently surfaced due to current demands in seeking alternative DNA screening tools that are more efficient, versatile, and cost-effective. This review aims to understand the several aspects of NGS technology, including its most current and expanding uses, advantages, and limitations, along with the issues and solutions related to its integration into routine screening and diagnosis of thalassemias. Hitherto, NGS has been a groundbreaking technology that offers tremendous improvements as a diagnostic tool for thalassemia in terms of its higher throughput, accuracy, and adaptability. The superiority of NGS in detecting rare variants, solving complex hematological problems, and providing non-invasive alternatives to neonatal diagnosis cannot be overlooked. However, several pitfalls still preclude its use as a stand-alone technique over conventional methods. |
| first_indexed | 2024-04-12T18:06:31Z |
| format | Article |
| id | doaj.art-ab44b8ac3a07442fa453e6d103693234 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-12T18:06:31Z |
| publishDate | 2022-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-ab44b8ac3a07442fa453e6d1036932342022-12-22T03:21:58ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-09-011010.3389/fped.2022.10157691015769Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-reviewSyahirah Amnani SuhaimiIhsan Nazurah ZulkipliHazim GhaniMas Rina Wati Abdul-HamidThalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder. Today, many clinical and research laboratories have widely utilized next-generation sequencing (NGS) technologies to identify diseases, from germline and somatic disorders to infectious diseases. Yet, NGS application in thalassemia is limited and has just recently surfaced due to current demands in seeking alternative DNA screening tools that are more efficient, versatile, and cost-effective. This review aims to understand the several aspects of NGS technology, including its most current and expanding uses, advantages, and limitations, along with the issues and solutions related to its integration into routine screening and diagnosis of thalassemias. Hitherto, NGS has been a groundbreaking technology that offers tremendous improvements as a diagnostic tool for thalassemia in terms of its higher throughput, accuracy, and adaptability. The superiority of NGS in detecting rare variants, solving complex hematological problems, and providing non-invasive alternatives to neonatal diagnosis cannot be overlooked. However, several pitfalls still preclude its use as a stand-alone technique over conventional methods.https://www.frontiersin.org/articles/10.3389/fped.2022.1015769/fullNGStargeted sequencingWESWGSα-thalassemiaβ-thalassemia |
| spellingShingle | Syahirah Amnani Suhaimi Ihsan Nazurah Zulkipli Hazim Ghani Mas Rina Wati Abdul-Hamid Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review Frontiers in Pediatrics NGS targeted sequencing WES WGS α-thalassemia β-thalassemia |
| title | Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review |
| title_full | Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review |
| title_fullStr | Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review |
| title_full_unstemmed | Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review |
| title_short | Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review |
| title_sort | applications of next generation sequencing in the screening and diagnosis of thalassemia a mini review |
| topic | NGS targeted sequencing WES WGS α-thalassemia β-thalassemia |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.1015769/full |
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