Detecting rare thalassemia in children with anemia using third-generation sequencing
ABSTRACTBackground In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion. This study aims to explore the application value of...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2023.2241226 |
| _version_ | 1797752276564049920 |
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| author | Zhen-min Ren Wu-jiao Li Zhi-hao Xing Xiao-ying Fu Ju-yan Zhang Yun-sheng Chen De-fa Li |
| author_facet | Zhen-min Ren Wu-jiao Li Zhi-hao Xing Xiao-ying Fu Ju-yan Zhang Yun-sheng Chen De-fa Li |
| author_sort | Zhen-min Ren |
| collection | DOAJ |
| description | ABSTRACTBackground In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion. This study aims to explore the application value of third-generation sequencing (TGS) in the diagnosis of rare thalassemia in children with anemia.Methods We enrolled 20 children with anemia, excluding from iron deficiency anemia (IDA). TGS was employed to identify both known and novel thalassemia genotypes, while sanger sequencing was used to confirm the novel mutation detected.Results Among the 20 samples, we identified 5 cases of rare thalassemia. These included β−4.9 (hg38,Chr11:5226187-5231089) at HBB gene, α−91(HBA2:c.*91delT), αCD30(HBA2:c.91-93delGAG), Chinese Gγ+(Aγδβ)0(NG_000007.3: g .48795-127698 del 78904) and delta – 77(T > C)(HBD:c.-127T>C). Notably, the –SEA/α−91α genotype associated with severe non-deletional hemoglobin H disease (HbH disease) has not been previously reported. Patients with genotypes β654/β−4.9 and –SEA/α−91α necessitate long-term blood transfusions, and those with the –SEA/αCD30α, Chinese Gγ+(Aγδβ)0 and delta thalassemia demonstrate mild anemia.Conclusions TGS demonstrates promising potential as a diagnostic tool for suspected cases of rare thalassemia in children, especially those suspected to have transfusion-dependent thalassemia (TDT). |
| first_indexed | 2024-03-12T17:01:56Z |
| format | Article |
| id | doaj.art-795900d62e6b442c90034168e62ed6c4 |
| institution | Directory Open Access Journal |
| issn | 1607-8454 |
| language | English |
| last_indexed | 2024-03-12T17:01:56Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj.art-795900d62e6b442c90034168e62ed6c42023-08-07T11:30:42ZengTaylor & Francis GroupHematology1607-84542023-12-0128110.1080/16078454.2023.2241226Detecting rare thalassemia in children with anemia using third-generation sequencingZhen-min Ren0Wu-jiao Li1Zhi-hao Xing2Xiao-ying Fu3Ju-yan Zhang4Yun-sheng Chen5De-fa Li6Department of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaBerry Genomics Corporation, Beijing, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaDepartment of Laboratory Medicine, Shenzhen Children´s Hospital, Shenzhen, People’s Republic of ChinaABSTRACTBackground In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion. This study aims to explore the application value of third-generation sequencing (TGS) in the diagnosis of rare thalassemia in children with anemia.Methods We enrolled 20 children with anemia, excluding from iron deficiency anemia (IDA). TGS was employed to identify both known and novel thalassemia genotypes, while sanger sequencing was used to confirm the novel mutation detected.Results Among the 20 samples, we identified 5 cases of rare thalassemia. These included β−4.9 (hg38,Chr11:5226187-5231089) at HBB gene, α−91(HBA2:c.*91delT), αCD30(HBA2:c.91-93delGAG), Chinese Gγ+(Aγδβ)0(NG_000007.3: g .48795-127698 del 78904) and delta – 77(T > C)(HBD:c.-127T>C). Notably, the –SEA/α−91α genotype associated with severe non-deletional hemoglobin H disease (HbH disease) has not been previously reported. Patients with genotypes β654/β−4.9 and –SEA/α−91α necessitate long-term blood transfusions, and those with the –SEA/αCD30α, Chinese Gγ+(Aγδβ)0 and delta thalassemia demonstrate mild anemia.Conclusions TGS demonstrates promising potential as a diagnostic tool for suspected cases of rare thalassemia in children, especially those suspected to have transfusion-dependent thalassemia (TDT).https://www.tandfonline.com/doi/10.1080/16078454.2023.2241226rare thalassemiahemoglobin H diseasetransfusion-dependent thalassemiathird-generation sequencing |
| spellingShingle | Zhen-min Ren Wu-jiao Li Zhi-hao Xing Xiao-ying Fu Ju-yan Zhang Yun-sheng Chen De-fa Li Detecting rare thalassemia in children with anemia using third-generation sequencing Hematology rare thalassemia hemoglobin H disease transfusion-dependent thalassemia third-generation sequencing |
| title | Detecting rare thalassemia in children with anemia using third-generation sequencing |
| title_full | Detecting rare thalassemia in children with anemia using third-generation sequencing |
| title_fullStr | Detecting rare thalassemia in children with anemia using third-generation sequencing |
| title_full_unstemmed | Detecting rare thalassemia in children with anemia using third-generation sequencing |
| title_short | Detecting rare thalassemia in children with anemia using third-generation sequencing |
| title_sort | detecting rare thalassemia in children with anemia using third generation sequencing |
| topic | rare thalassemia hemoglobin H disease transfusion-dependent thalassemia third-generation sequencing |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2023.2241226 |
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