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Article

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

Human genomics - 21 Feb 2025

Zhang Han, Wang Ziran, Yang Zhuo, Chen Xinfei, Xu Hongrui, Zeng Xianhui, Yu Qi, Kong Lingjun, Zhang Rui, Yi Jie, Wu Jie, Gan Yong, Chen Yu, Ye Ali, Wang Ziyi, Zhang Dong, Han Xiao, Du Juan, Dou Yaling

Abstract excerpt

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 thalassemia screened at Peking Union Medical College Hospital (PUMCH) between January 2018 and January 2022 were collected....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39985037
DOI: 10.1186/s40246-024-00715-4
PMCID: PMC11846217

Genes

HBA2
HBB

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