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Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 6
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Short Communications

α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T)

John S. Waye Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, CanadaCorrespondence[email protected]
,
Barry Eng Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada
,
Fabrizio Dutly Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland
&
Hannes Frischknecht Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland
Pages 519-522 | Received 31 Dec 2008, Accepted 04 Apr 2009, Published online: 03 Dec 2009

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Hafiza Alauddin, Khairina Kamarudin, Tang Yee Loong, Raja Zahratul Azma, Azlin Ithnin, Norunaluwar Jalil, Noor-Farisah Razak, Danny Koh-Xuan-Rong, Endom Ismail, Loh C-Khai, Zarina Abdul Latiff, Hamidah Alias & Ainoon Othman. (2018) A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia. Hemoglobin 42:4, pages 247-251.
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Samaneh Farashi, Shadi Vakili, Negin F. Garous, Mehri Ashki, Fatemeh Forouzesh Pour, Fatemeh Zeinali, Fariba Rad, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2016) Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene. Hemoglobin 40:1, pages 38-43.
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Talal Qadah, Jill Finlayson, Philippe Joly & Reza Ghassemifar. (2014) Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon. Hemoglobin 38:1, pages 13-18.
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Talal Qadah, Jill Finlayson, Christopher Newbound, Nicole Pell, Michelle Pascoe, Laura Greenwood, Paula Holmes, Dianne Grey, John Beilby & Reza Ghassemifar. (2012) Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon. Hemoglobin 36:3, pages 244-252.
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Talal Qadah, Jill Finlayson & Reza Ghassemifar. (2012) In vitro Characterization of the α-Thalassemia Point Mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)]. Hemoglobin 36:1, pages 38-46.
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