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Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 6
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Original Article

Multiplex Ligation-Dependent Probe Amplification Identification of 17 Different β-Globin Gene Deletions (Including Four Novel Mutations) in the Uk Population

Alice E. Gallienne The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
Hélène M. Dréau The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
Janice McCarthy The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
Adele T. Timbs The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
Janet M. Hampson The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
Anna Schuh The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
,
John M. Old The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UKCorrespondence[email protected]
&
Shirley J. Henderson The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford, Oxfordshire, UK
 show all
Pages 406-416 | Received 19 Jun 2009, Accepted 20 Jul 2009, Published online: 03 Dec 2009

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Joanne Traeger-Synodinos & Cornelis L. Harteveld. (2017) Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives. Expert Review of Molecular Diagnostics 17:3, pages 281-291.
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Shirley J. Henderson, Adele T. Timbs, Janice McCarthy, Alice E. Gallienne, Melanie Proven, Michelle J. Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalil & John M. Old. (2016) Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. Hemoglobin 40:2, pages 75-84.
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John Old & Shirley Henderson. (2010) Molecular diagnostics for haemoglobinopathies. Expert Opinion on Medical Diagnostics 4:3, pages 225-240.
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Articles from other publishers (16)

Kritsada Singha, Wanicha Tepakhan, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Goonnapa Fucharoen & Supan Fucharoen. (2023) A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation. Clinica Chimica Acta 551, pages 117615.
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Aubrey Milunsky & Jeff M. MilunskyJohn M. Old & Jan Traeger‐Synodinos. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 1002 1034 .
Giuseppina BARBERIO. (2021) Il Laboratorio nella diagnostica delle emoglobinopatie alla nascita e nell'età adulta. La Rivista Italiana della Medicina di Laboratorio 17:1.
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Dina N. Greene, Ashley Eckel & Christina M. Lockwood. 2020. Contemporary Practice in Clinical Chemistry. Contemporary Practice in Clinical Chemistry 413 427 .
Anita Nadkarni & Priya Hariharan. 2019. Hematopathology. Hematopathology 469 482 .
John Old, Adele Timbs, Janice McCarthy, Alice Gallienne, Melanie Proven, Michelle Rugless, Herminio Lopez, Jennifer Eglinton, Dariusz Dziedzic, Matthew Beardsall, Mohamed S.M. Khalila & Shirley Henderson. (2018) New Challenges in Diagnosis of Haemoglobinopathies: Migration of Populations. Thalassemia Reports 8:1, pages 7474.
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Gülüzar Özbolat & Abdullah Tuli. (2017) Talasemi ve ilgili hemoglobinopatilerin Moleküler Tanı Yöntemleri: Günümüz ve GelecekMolecular Diagnostics Methods of Thalassemia and related hemoglobinopathies: Present and Future. Adıyaman Üniversitesi Sağlık Bilimleri Dergisi 3:3, pages 599-616.
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Ozge Ozalp Yuregir, Akif Ayaz, Sinem Yalcintepe, Sezin Canbek, Didar Yanardag Acik, Basak Taburoglu Yilmaz & Tugce B. Balci. (2015) Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey. Indian Journal of Hematology and Blood Transfusion 32:4, pages 454-459.
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Dina N. Greene, Cecily P. Vaughn, Bridgit O. Crews & Archana M. Agarwal. (2015) Advances in detection of hemoglobinopathies. Clinica Chimica Acta 439, pages 50-57.
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Jan Traeger-SynodinosCornelis L Harteveld. (2014) Advances in technologies for screening and diagnosis of hemoglobinopathies. Biomarkers in Medicine 8:1, pages 119-131.
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Ariane Blattner, Saskia Brunner-Agten, Katja Ludin, Martin Hergersberg, Roberto Herklotz, Andreas R. Huber & Benno Röthlisberger. (2013) Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH. Blood Cells, Molecules, and Diseases 51:1, pages 39-47.
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Serge Pissard, Valérie Raclin, Philippe Lacan, Caroline Garcia, Patricia Aguilar-Martinez, Alain Francina & Philippe Joly. (2013) Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas. Clinica Chimica Acta 415, pages 35-40.
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John Old. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 44 .
Helen Rooks, Barnaby Clark, Steve Best, Peter Rushton, Matthew Oakley, Onn Shaun Thein, Ann C. Cuthbert, Alison Britland, Afruj Ruf & Swee Lay Thein. (2012) A novel 506kb deletion causing εγδβ thalassemia. Blood Cells, Molecules, and Diseases 49:3-4, pages 121-127.
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Heinz Troxler, Peter Kleinert, Markus Schmugge & Oliver Speer. 2012. 1 28 .
Marion Phylipsen, Attawut Chaibunruang, Ingrid P. Vogelaar, Jeetindra R. A. Balak, Rianne A. C. Schaap, Yavuz Ariyurek, Supan Fucharoen, Johan T. den Dunnen, Piero C. Giordano, Egbert Bakker & Cornelis L. Harteveld. (2012) Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements. Human Mutation 33:1, pages 272-280.
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