Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals-Reference-Cited by-同舟云学术

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Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals

Published:2021-01-02 Issue:1 Volume:45 Page:49-51
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Liu Li¹,Sun Yan²,Chen Shiping²,Yu Churen¹,Cao Peijie¹,Sun Jun³⁴,Peng Zhiyu²,Mao Ping¹⁵

Affiliation:

1. Department of Hematology, Dongguan Houjie Hospital, Dongguan, Guangdong Province, People’s Republic of China

2. BGI Genomics, BGI-Shenzhen, Shenzhen, Guangdong Province, People’s Republic of China

3. Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, Hebei Province, People’s Republic of China

4. Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, Hebei Province, People’s Republic of China

5. Department of Hematology, Guangzhou First Municipal People’s Hospital, Guangzhou, Guangdong Province, People’s Republic of China

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2021.1882483

Reference10 articles.

1. First Case of a Compound Heterozygosity for Two Nondeletionalα-Thalassemia mutations, Hb Constant Spring and Hb Quong Sze

2. α-thalassaemia

3. The prevalence and spectrum of and thalassaemia in Guangdong Province: implications for the future health burden and population screening

4. Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives

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