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Hemoglobin
international journal for hemoglobin research
Volume 43, 2019 - Issue 1
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Original Article

Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene

Qiong SuThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, GuiZhou Province, People’s Republic of China; ;Zunyi Medical and Pharmaceutical College, Zunyi, GuiZhou Province, People’s Republic of ChinaView further author information
,
Shiping ChenBeijing Genomics Institute (BGI) Shenzhen, Shenzhen, Guangdong Province, People’s Republic of China; View further author information
,
Liusong WuThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, GuiZhou Province, People’s Republic of China; View further author information
,
Runmei TianThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, GuiZhou Province, People’s Republic of China; View further author information
,
Xiaoqin YangBeijing Genomics Institute (BGI) Shenzhen, Shenzhen, Guangdong Province, People’s Republic of China; View further author information
,
Xiaoyan HuangBeijing Genomics Institute (BGI) Shenzhen, Shenzhen, Guangdong Province, People’s Republic of China; View further author information
,
Yan ChenThe Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, GuiZhou Province, People’s Republic of China; Correspondence[email protected]
View further author information
,
Zhiyu PengBeijing Genomics Institute (BGI) Shenzhen, Shenzhen, Guangdong Province, People’s Republic of China; Correspondence[email protected]
View further author information
&
Jindong ChenDepartment of Urology, University of Rochester Medical Center, Rochester, NYUSA; ;Department of Medical Genetics, Zunyi Medical University, Zunyi, GuiZhou Province, People’s Republic of China; Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0003-4253-6850View further author information
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Pages 7-11 | Received 18 Aug 2018, Accepted 31 Jan 2019, Published online: 14 May 2019

Citations (8)

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Read on this site (1)

Xiao-Mei Lin, Fan Jiang, Jian Li & Dong-Zhi Li. (2022) Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT). Hemoglobin 46:4, pages 253-255.
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Articles from other publishers (7)

Liu-Song Wu, Xi Luo, Mei Tan, Li-Jun Zhang, Hong-Fang Luo, Ge Huang, Pei Huang, Jindong Chen & Yan Chen. (2024) Prevalence of thalassemia-carrier couples and fertility risk assessment. International Journal of Hematology 119:4, pages 374-382.
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Jun Nagahama, Takuro Nishikawa, Tatsuro Nakamura, Shunsuke Nakagawa, Yuichi Kodama, Hideyuki Terazono, Manabu Wakamatsu, Hideki Muramatsu, Yasuhiro Yamashiro, Hitoshi Kanno & Yasuhiro Okamoto. (2023) Severe β‐thalassemia (Hb Zunyi) mimicking congenital dyserythropoietic anemia. Pediatric Blood & Cancer 70:12.
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Qin Zhang, Yujia Huo, Qinggang Sun, Nan Liu, Hongchuan Shi, Minghui Wang, Jinming Xiao, Hanzi Yuan & Xiangfeng Tang. (2023) Case report: Curing a rare, unstable hemoglobin variant Hb Bristol-Alesha using haploidentical hematopoietic stem cell transplantation. Frontiers in Immunology 14.
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Xin Guo, Zhiguo Liu, Yulian Mu, Lei Huang, Kui Li & Jing Zhang. (2022) Spatial and Temporal Expression Characteristics of the HBB Gene Family in Six Different Pig Breeds. Genes 13:10, pages 1822.
Crossref
Xi Luo, Xiang-mei Zhang, Liu-song Wu, Jindong Chen & Yan Chen. (2021) Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China. BMC Medical Genomics 14:1.
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Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld & Maria del Mar Mañú-Pereira. (2021) Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. Frontiers in Physiology 12.
Crossref
Barbara J. Bain. 2020. Haemoglobinopathy Diagnosis. Haemoglobinopathy Diagnosis 85 184 .

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