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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 2
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Review Article

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations

Shirley J. HendersonNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Adele T. TimbsNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Janice McCarthyNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Alice E. GallienneNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Melanie ProvenNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Michelle J. RuglessNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Herminio LopezNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Jennifer EglintonNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Dariusz DziedzicNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Matthew BeardsallNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
,
Mohamed S.M. KhalilNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UK
&
John M. OldNational Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford, Oxfordshire, UKCorrespondence[email protected]
 show all
Pages 75-84 | Received 31 Jul 2015, Accepted 25 Sep 2015, Published online: 04 Dec 2015

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Sona B. Nair, Arundhati S. Athalye, Madhavi Panphalia & Firuza R. Parikh. (2022) First Report of an α Chain Variant [Hb Coombe Park (HBA2: c.382A>G)] from India, Coinherited with a Novel SERPINC1 Gene Mutation: A Double Whammy?. Hemoglobin 46:5, pages 269-271.
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Runa M. Grimholt, Bente Fjeld & Olav Klingenberg. (2021) Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing. Scandinavian Journal of Clinical and Laboratory Investigation 81:8, pages 670-678.
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Georgina Martin, Runa M. Grimholt, Doan Le, Anne G. Bechensteen, Olav Klingenberg, Bente Fjeld, Thomas Fourie, Renee Perrier, Melanie Proven, Shirley J. Henderson & Noémi B. A. Roy. (2021) Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype. Hemoglobin 45:4, pages 215-219.
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Milad Rafat, Zeinab Allamehzadeh, Mohammad Shekari, Masoumeh Afsa & Kianoosh Malekzadeh. (2021) The Effect of HBB: c.-121C>T Variant [–71 (C>T)] on the β-Globin Promoter: Case Series Study. Hemoglobin 45:4, pages 234-238.
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Qiang Zhao, Su-Min Zhao, Xue Zhang, Shi-Ping Chen, Jun Sun, Zhi-Yu Peng, Yan Sun, Chuang Fan, Xiao-Dan Xing & Rong Li. (2021) Detection of the HBB: c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia. Hemoglobin 45:3, pages 150-153.
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Jordyn A. Moore, Beverley M. Pullon, Darrell Wang & Stephen O. Brennan. (2021) Hb Waikato [α127(H10)Lys→Gln; HBA1: c.382A>C]: A Novel High Oxygen Affinity Variant. Hemoglobin 45:1, pages 41-45.
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Mohamed S.M. Khalil, Adele T. Timbs, Shirley J. Henderson, Anna Schuh & John M. Old. (2020) Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression. Hemoglobin 44:6, pages 442-445.
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Beverley M. Pullon & Jordyn A. Moore. (2020) Hb Manitoba [α102(G9)Ser→Arg] in Pasifika: Tongan Case Report. Hemoglobin 44:4, pages 290-293.
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Mohamed S.M. Khalil, Adele T. Timbs, Shirley J. Henderson, Anna Schuh, Mohamed M. El-Khawanky & John M. Old. (2020) A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK. Hemoglobin 44:3, pages 195-200.
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Ibrahim Al Nabhani, John C. Aneke, Madeleine Verhovsek, Barry Eng, Kevin H.M. Kuo, Leona C. Rudinskas & John S. Waye. (2020) Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]. Hemoglobin 44:1, pages 10-12.
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Ya-Li Lei, Hong Sui, Yu-Juan Liu, Jun-Jun Pan, Yan-Hui Liu & Ji-Wu Lou. (2019) Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C). Hemoglobin 43:4-5, pages 241-244.
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Charles Agbuduwe, Michelle Rugless, Nigel Asba, Melanie Proven & Muttuswamy Sivakumaran. (2019) Severe Drug-Induced Hemolysis in a Patient with Compound Heterozygosity for Hb Peterborough (HBB: c.334G>T) and Hb Lepore-Boston-Washington (NG_000007.3: g.63632_71046del). Hemoglobin 43:1, pages 56-59.
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Runa M. Grimholt, Anne Vestli, Petter Urdal, Anne Grete Bechensteen, Bente Fjeld, Bjørn Dalhus & Olav Klingenberg. (2018) Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A Novel Unstable Hemoglobin Variant Found in a Norwegian Patient. Hemoglobin 42:2, pages 78-83.
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John S. Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura & Lynda Walker. (2016) Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A). Hemoglobin 40:5, pages 369-370.
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Yu Yang, Dong-Zhi Li & Ping He. (2016) Hb Dapu (HBA2: c.52G > T): A Novel Nondeletional α-Thalassemia Mutation. Hemoglobin 40:4, pages 264-266.
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