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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 1
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Original Article

In vitro Characterization of the α-Thalassemia Point Mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)]

Talal QadahSchool of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia;Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia;Department of Medical Laboratory Sciences, College of Health Sciences, King Abdul-Aziz University, Jeddah, Saudi Arabia
,
Jill FinlaysonSchool of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia;Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia
&
Reza GhassemifarSchool of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Western Australia, Australia;Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, AustraliaCorrespondence[email protected]
Pages 38-46 | Received 07 Jan 2011, Accepted 18 May 2011, Published online: 03 Oct 2011

Citations (7)

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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, Emma North & Reza Ghassemifar. (2015) Molecular Characterization of Hb Hamilton Hill (HBA2: c.388delC), a Novel HBA2 Variant Generating a Premature Termination Codon and Truncated HBA2 Chain. Hemoglobin 39:2, pages 88-94.
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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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Articles from other publishers (2)

Talal Qadah, Jill Finlayson, Maxine Dennis & Reza Ghassemifar. (2014) Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2:c.-59C>T], [HBA2:c.-81C>A] and [HBA2:c.-91G>A] reveal varying patterns of transcriptional and translational activities. Pathology 46:1, pages 46-52.
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Annie Chow, Reza Ghassemifar & Jill Finlayson. (2013) Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance. Pathology 45:6, pages 591-594.
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