Application of third-generation sequencing technology in the genetic testing of thalassemia
Abstract Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China. Severe α-thalassemia and intermediate α-thalas...
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BMC
2024-12-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-024-00701-4 |
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| author | Weihao Li Yanchou Ye |
| author_facet | Weihao Li Yanchou Ye |
| author_sort | Weihao Li |
| collection | DOAJ |
| description | Abstract Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China. Severe α-thalassemia and intermediate α-thalassemia are among the most common birth defects in southern China. Intermediate α-thalassemia, also known as Hb H disease, is characterized by moderate anemia. Severe α-thalassemia, also known as Hb Bart’s Hydrops fetalis syndrome, is a fatal condition. Infants with severe β-thalassemia do not show symptoms at birth but develop severe anemia later, requiring expensive treatment. Most untreated patients with severe β-thalassemia die in early childhood. Screening for thalassemia carriers and genetic diagnosis in high-prevalence areas significantly reduce the incidence of severe thalassemia. This review aims to summarize the genetic diagnostic approaches for thalassemia. Conventional genetic testing methods can identify 95–98% of thalassemia carriers but may miss rare thalassemia genotypes. Third-Generation Sequencing offers significant advantages in complementing other genetic diagnostic approaches, providing a basis for genetic counseling and prenatal diagnosis. |
| format | Article |
| id | doaj-art-61d6146ce2db4dfbb39caa70b99f1e06 |
| institution | Kabale University |
| issn | 1755-8166 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
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| series | Molecular Cytogenetics |
| spelling | doaj-art-61d6146ce2db4dfbb39caa70b99f1e062024-12-22T12:49:42ZengBMCMolecular Cytogenetics1755-81662024-12-011711810.1186/s13039-024-00701-4Application of third-generation sequencing technology in the genetic testing of thalassemiaWeihao Li0Yanchou Ye1Reproductive Medicine Center, The Seventh Affiliated Hospital of Sun Yat-sen UniversityPrenatal Diagnostic Center, Medical Genetics Center, Department of Obstetrics and Gynaecology, The Seventh Affiliated Hospital of Sun Yat-sen UniversityAbstract Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China. Severe α-thalassemia and intermediate α-thalassemia are among the most common birth defects in southern China. Intermediate α-thalassemia, also known as Hb H disease, is characterized by moderate anemia. Severe α-thalassemia, also known as Hb Bart’s Hydrops fetalis syndrome, is a fatal condition. Infants with severe β-thalassemia do not show symptoms at birth but develop severe anemia later, requiring expensive treatment. Most untreated patients with severe β-thalassemia die in early childhood. Screening for thalassemia carriers and genetic diagnosis in high-prevalence areas significantly reduce the incidence of severe thalassemia. This review aims to summarize the genetic diagnostic approaches for thalassemia. Conventional genetic testing methods can identify 95–98% of thalassemia carriers but may miss rare thalassemia genotypes. Third-Generation Sequencing offers significant advantages in complementing other genetic diagnostic approaches, providing a basis for genetic counseling and prenatal diagnosis.https://doi.org/10.1186/s13039-024-00701-4Α-thalassemiaΒ-thalassemiaGenetic diagnosisThird-generation sequencingRare thalassemia genotypes |
| spellingShingle | Weihao Li Yanchou Ye Application of third-generation sequencing technology in the genetic testing of thalassemia Molecular Cytogenetics Α-thalassemia Β-thalassemia Genetic diagnosis Third-generation sequencing Rare thalassemia genotypes |
| title | Application of third-generation sequencing technology in the genetic testing of thalassemia |
| title_full | Application of third-generation sequencing technology in the genetic testing of thalassemia |
| title_fullStr | Application of third-generation sequencing technology in the genetic testing of thalassemia |
| title_full_unstemmed | Application of third-generation sequencing technology in the genetic testing of thalassemia |
| title_short | Application of third-generation sequencing technology in the genetic testing of thalassemia |
| title_sort | application of third generation sequencing technology in the genetic testing of thalassemia |
| topic | Α-thalassemia Β-thalassemia Genetic diagnosis Third-generation sequencing Rare thalassemia genotypes |
| url | https://doi.org/10.1186/s13039-024-00701-4 |
| work_keys_str_mv | AT weihaoli applicationofthirdgenerationsequencingtechnologyinthegenetictestingofthalassemia AT yanchouye applicationofthirdgenerationsequencingtechnologyinthegenetictestingofthalassemia |