The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants
•Routine genetic analysis of thalassemia only identified 23 common variants in China.•Long-read sequencing identified rare and novel variants that explained phenotypes.•Long-read sequencing assisted for better diagnosis of thalassemia. Thalassemia is one of the most widely distributed monogenic diso...
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| Published in | Clinica chimica acta Vol. 551; p. 117619 |
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| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Netherlands
Elsevier B.V
01.11.2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-8981 1873-3492 1873-3492 |
| DOI | 10.1016/j.cca.2023.117619 |
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| Abstract | •Routine genetic analysis of thalassemia only identified 23 common variants in China.•Long-read sequencing identified rare and novel variants that explained phenotypes.•Long-read sequencing assisted for better diagnosis of thalassemia.
Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype. Genetic analysis is always needed to make a correct diagnosis. However, routine genetic analysis of thalassemia used in the Chinese population identifies only 23 common variants, resulting in many cases undiagnosed or being misdiagnosed. In this study, we applied a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to 30 subjects whose hematologic screening results could not be explained by the routine genetic test results. The identification of additional variants and the correction of genotypes allowed the interpretation of the clinical phenotype in 24 subjects, which have been confirmed to be correct by independent experiments. Moreover, we identified a novel 8.4-kb deletion containing the entire HBB and HBD genes as well as part of the HBBP1 gene, expanding the genotype spectrum of β-thalassemia. CATSA showed a great advantage over other genetic tests in the diagnosis of thalassemia caused by rare variants. |
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| AbstractList | Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype. Genetic analysis is always needed to make a correct diagnosis. However, routine genetic analysis of thalassemia used in the Chinese population identifies only 23 common variants, resulting in many cases undiagnosed or being misdiagnosed. In this study, we applied a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to 30 subjects whose hematologic screening results could not be explained by the routine genetic test results. The identification of additional variants and the correction of genotypes allowed the interpretation of the clinical phenotype in 24 subjects, which have been confirmed to be correct by independent experiments. Moreover, we identified a novel 8.4-kb deletion containing the entire HBB and HBD genes as well as part of the HBBP1 gene, expanding the genotype spectrum of β-thalassemia. CATSA showed a great advantage over other genetic tests in the diagnosis of thalassemia caused by rare variants. Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype. Genetic analysis is always needed to make a correct diagnosis. However, routine genetic analysis of thalassemia used in the Chinese population identifies only 23 common variants, resulting in many cases undiagnosed or being misdiagnosed. In this study, we applied a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to 30 subjects whose hematologic screening results could not be explained by the routine genetic test results. The identification of additional variants and the correction of genotypes allowed the interpretation of the clinical phenotype in 24 subjects, which have been confirmed to be correct by independent experiments. Moreover, we identified a novel 8.4-kb deletion containing the entire HBB and HBD genes as well as part of the HBBP1 gene, expanding the genotype spectrum of β-thalassemia. CATSA showed a great advantage over other genetic tests in the diagnosis of thalassemia caused by rare variants.Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype. Genetic analysis is always needed to make a correct diagnosis. However, routine genetic analysis of thalassemia used in the Chinese population identifies only 23 common variants, resulting in many cases undiagnosed or being misdiagnosed. In this study, we applied a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to 30 subjects whose hematologic screening results could not be explained by the routine genetic test results. The identification of additional variants and the correction of genotypes allowed the interpretation of the clinical phenotype in 24 subjects, which have been confirmed to be correct by independent experiments. Moreover, we identified a novel 8.4-kb deletion containing the entire HBB and HBD genes as well as part of the HBBP1 gene, expanding the genotype spectrum of β-thalassemia. CATSA showed a great advantage over other genetic tests in the diagnosis of thalassemia caused by rare variants. •Routine genetic analysis of thalassemia only identified 23 common variants in China.•Long-read sequencing identified rare and novel variants that explained phenotypes.•Long-read sequencing assisted for better diagnosis of thalassemia. Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of phenotypes from asymptomatic to fatal, which is associated with the degree of imbalance between α- and β-globin chains. Therefore, individuals with different genotypes could present with a similar phenotype. Genetic analysis is always needed to make a correct diagnosis. However, routine genetic analysis of thalassemia used in the Chinese population identifies only 23 common variants, resulting in many cases undiagnosed or being misdiagnosed. In this study, we applied a long-read sequencing-based approach termed comprehensive analysis of thalassemia alleles (CATSA) to 30 subjects whose hematologic screening results could not be explained by the routine genetic test results. The identification of additional variants and the correction of genotypes allowed the interpretation of the clinical phenotype in 24 subjects, which have been confirmed to be correct by independent experiments. Moreover, we identified a novel 8.4-kb deletion containing the entire HBB and HBD genes as well as part of the HBBP1 gene, expanding the genotype spectrum of β-thalassemia. CATSA showed a great advantage over other genetic tests in the diagnosis of thalassemia caused by rare variants. |
| ArticleNumber | 117619 |
| Author | Cui, Di Meng, Wanli Yang, Yingsong Zhang, Yanghui Li, Caipeng Li, Qiuli Tan, Shuming Li, Xiaomin Li, Haoxian Feng, Jianjiang Li, Zhiming |
| Author_xml | – sequence: 1 givenname: Jianjiang surname: Feng fullname: Feng, Jianjiang organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 2 givenname: Di surname: Cui fullname: Cui, Di organization: Berry Genomics Corporation, Beijing 102200, China – sequence: 3 givenname: Caipeng surname: Li fullname: Li, Caipeng organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 4 givenname: Yingsong surname: Yang fullname: Yang, Yingsong organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 5 givenname: Qiuli surname: Li fullname: Li, Qiuli organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 6 givenname: Xiaomin surname: Li fullname: Li, Xiaomin organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 7 givenname: Shuming surname: Tan fullname: Tan, Shuming organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 8 givenname: Zhiming surname: Li fullname: Li, Zhiming organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 9 givenname: Wanli surname: Meng fullname: Meng, Wanli organization: Berry Genomics Corporation, Beijing 102200, China – sequence: 10 givenname: Haoxian surname: Li fullname: Li, Haoxian email: lihaoxian861212@hotmail.com organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China – sequence: 11 givenname: Yanghui surname: Zhang fullname: Zhang, Yanghui email: zyhrabbit@126.com organization: Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China |
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| Cites_doi | 10.1038/ejhg.2015.39 10.1590/1678-4685-gmb-2016-0330 10.1016/j.jmoldx.2021.06.008 10.1111/ijlh.12108 10.1371/journal.pone.0103020 10.1093/nar/gkt911 10.1007/s00438-016-1193-0 10.5858/arpa.2022-0168-OA 10.1081/HEM-120018438 10.1515/cclm-2018-0647 10.1093/clinchem/hvac200 10.1016/j.hoc.2017.11.006 10.1111/ijlh.12527 10.1016/j.jmoldx.2020.05.004 10.1016/j.bcmd.2012.05.010 10.1016/S0140-6736(17)31822-6 10.1016/j.ebiom.2017.08.015 10.1371/journal.pone.0089855 10.1016/j.cca.2012.03.027 10.1002/humu.23863 10.1016/j.jmoldx.2011.03.005 10.1038/s41587-019-0217-9 10.1016/j.bcmd.2007.11.006 10.1038/s10038-021-00983-1 10.1056/NEJM200008243430804 10.1038/gim.2015.30 |
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| Keywords | β-thalassemia rare variant Large fragment deletion Long-read sequencing (LRS) Hb variants α-thalassemia rare variant |
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| Snippet | •Routine genetic analysis of thalassemia only identified 23 common variants in China.•Long-read sequencing identified rare and novel variants that explained... Thalassemia is one of the most widely distributed monogenic disorders in the world and affects the largest number of people. It can manifest a wide spectrum of... |
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| SubjectTerms | Hb variants Large fragment deletion Long-read sequencing (LRS) α-thalassemia rare variant β-thalassemia rare variant |
| Title | The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants |
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