Detecting rare thalassemia in children with anemia using third-generation sequencing

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...

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Bibliographic Details
Main Authors: Zhen-min Ren, Wu-jiao Li, Zhi-hao Xing, Xiao-ying Fu, Ju-yan Zhang, Yun-sheng Chen, De-fa Li
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Hematology
Subjects:
rare thalassemia
hemoglobin H disease
transfusion-dependent thalassemia
third-generation sequencing
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2023.2241226

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