Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China

Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China

Abstract Objective Thalassemia is among the most common inherited diseases worldwide. We aimed to analyze the genotype and frequency distribution of thalassemia in a general hospital in Beijing and provide a reference for genetic counseling and prenatal diagnosis. Methods A total of 3196 cases of th...

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Bibliographic Details
Main Authors: Han Zhang, Ziran Wang, Zhuo Yang, Xinfei Chen, Hongrui Xu, Xianhui Zeng, Qi Yu, Lingjun Kong, Rui Zhang, Jie Yi, Jie Wu, Yong Gan, Yu Chen, Ali Ye, Ziyi Wang, Dong Zhang, Xiao Han, Juan Du, Yaling Dou
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Human Genomics
Subjects:
α-thalassemia
β-thalassemia
Genotype
Gene variant
Online Access:https://doi.org/10.1186/s40246-024-00715-4

Internet

https://doi.org/10.1186/s40246-024-00715-4

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