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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 2
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Original Article

Association of an α-Globin Gene Cluster Duplication and Heterozygous β-Thalassemia in a Patient with a Severe Thalassemia Syndrome

Hua JiangDepartment of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of China and
,
Sha LiuDepartment of Hematology/Oncology, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of China and
,
Yong-Ling ZhangPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of China
,
Jun-Hui WanPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of China
,
Ru LiPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of China
&
Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, People’s Republic of ChinaCorrespondence[email protected]
Pages 102-106 | Received 10 Sep 2014, Accepted 06 Oct 2014, Published online: 18 Feb 2015

Citations (15)

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Read on this site (3)

Ju Long, Feifei Gong, Lei Sun, Chunhui Yu & Enqi Liu. (2023) A novel α Globin Gene Cluster Duplication, αααα380 Heterozygous β0-Thal Variant, Leading to a Blood Transfusion-Dependent Phenotype. Hemoglobin 47:2, pages 25-30.
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Samaneh Farashi, Shadi Vakili, Negin Faramarzi Garous, Mehri Ashki, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2015) Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes. Expert Review of Hematology 8:5, pages 693-698.
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Sha Liu, Hua Jiang, Man-Yu Wu, Yong-Ling Zhang & Dong-Zhi Li. (2015) Thalassemia Intermedia Caused by 16p13.3 Sectional Duplication in a β-Thalassemia Heterozygous Child. Pediatric Hematology and Oncology 32:5, pages 349-353.
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Articles from other publishers (12)

Syahzuwan Hassan, Rosnah Bahar, Muhammad Farid Johan, Ezzeddin Kamil Mohamed Hashim, Wan Zaidah Abdullah, Ezalia Esa, Faidatul Syazlin Abdul Hamid & Zefarina Zulkafli. (2023) Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS) for the Diagnosis of Thalassemia. Diagnostics 13:3, pages 373.
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Cornelis L. Harteveld, Ahlem Achour, Sandra J. G. Arkesteijn, Jeanet ter Huurne, Maaike Verschuren, Sharda Bhagwandien‐Bisoen, Rianne Schaap, Linda Vijfhuizen, Hakima el Idrissi & Tamara T. Koopmann. (2022) The hemoglobinopathies, molecular disease mechanisms and diagnostics. International Journal of Laboratory Hematology 44:S1, pages 28-36.
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Yu Yang, Li Zhen & Dong-Zhi Li. (2022) Missed Diagnosis of α-Globin Gene Cluster Duplication in Prenatal Screening: Identified Incidentally by Invasive Testing. Indian Journal of Hematology and Blood Transfusion 38:3, pages 606-608.
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Stacy Colaco & Anita Nadkarni. (2021) Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers. Mutation Research/Reviews in Mutation Research 788, pages 108387.
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Lv-Yin Huang & Dong-Zhi Li. (2018) α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia?. British Journal of Haematology 183:4, pages 673-674.
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Neetu Rani, Manu Jamwal, Jasbir Kaur, Prashant Sharma, Pankaj Malhotra, Arindam Maitra, Ranvir Singh & Reena Das. (2018) Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis. Blood Cells, Molecules, and Diseases 72, pages 19-21.
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S. Liu, L.‐Y. Huang, F. Jiang, X.‐F. Sun & D.‐Z. Li. (2018) Complex interactions between thalassemia defective alleles compromise screening and cause severe anemia in a Chinese family. International Journal of Laboratory Hematology 40:3.
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Barnaby Clark, Claire Shooter, Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Peter Rushton, Helen Rooks, Xunde Wang, Anthi Drousiotou, Andriani Kyrri, Michael Hadjigavriel, Andrew Will, Chris Fisher, Douglas R. Higgs, Marion Phylipsen, Cornelis Harteveld, Marina Kleanthous & Swee Lay Thein. (2018) Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. British Journal of Haematology 180:1, pages 160-164.
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Orna Steinberg-Shemer, Jacob C. Ulirsch, Sharon Noy-Lotan, Tanya Krasnov, Dina Attias, Orly Dgany, Ruth Laor, Vijay G. Sankaran & Hannah Tamary. (2017) Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia. Molecular Case Studies 3:6, pages a001941.
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B. E. Clark, C. Shooter, F. Smith, D. Brawand & S. L. Thein. (2017) Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters. International Journal of Laboratory Hematology 39, pages 111-120.
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Edyta Klimczak-Jajor, Joanna Skulimowska, Paweł Turowski, Hanna Pyl, Małgorzata Uhrynowska, Katarzyna Guz, Ewa Mendek-Czajkowska, Anna Ejduk, Izabella Kopeć, Marzena Dębska & Ewa Brojer. (2016) Analiza mutacji talasemii alfa u chorych diagnozowanych w Instytucie Hematologii i Transfuzjologii. Acta Haematologica Polonica 47:4, pages 248-253.
Crossref
Lingling Hu, Xuan Shang, Sheng Yi, Ren Cai, Zhetao Li, Cuixian Liu, Yidan Liang, Decheng Cai, Feng Zhang & Xiangmin Xu. (2016) Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families. Molecular Genetics and Genomics 291:3, pages 1443-1450.
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