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

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

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

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