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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 5
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Short Communication

α-Thalassemia Trait Caused by Frameshift Mutations in Exon 2 of the α2-Globin Gene: HBA2:c.131delT and HBA2:c.143delA

Jill FinlaysonDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, AustraliaCorrespondence[email protected]
,
Reza GhassemifarDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, Australia
,
Paula HolmesDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Dianne GreyDepartment of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Christopher NewboundDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Nicole PellDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Michelle JennensDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
,
Laura GreenwoodDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia
&
John BeilbyDepartment of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia;School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, Perth, WA, Australia
 show all
Pages 511-515 | Received 09 Jan 2012, Accepted 13 Jun 2012, Published online: 19 Sep 2012
 
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Abstract

We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype.

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