Identification of a novel 145 kb deletion (Guigang deletion, –Guigang) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing
Objective To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS).Case report The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α0-thalassemia carrier status (Hb Bart’s 3.0%). Notably, both parent...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2412949 |
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