Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α^3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype

Jill Finlayson Department 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 Ghassemifar Department 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 Holmes Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Dianne Grey Department of Haematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Christopher Newbound Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Nicole Pell Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Michelle Jennens Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Claire Macaulay Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

Laura Greenwood Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Perth, WA, Australia

John Beilby Department 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

Abstract

We describe a novel frameshift mutation associated with an α-thalassemia (α-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the α^3.7 deletion, a novel mutation on the α2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the α2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132.

Keywords

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α^3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype

Information for

Open access

Opportunities

Help and information

Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature

Hb Lynwood [α107(G14) (–T) (α2) HBA2:c.323delT)] in Conjunction with the α^3.7 Deletion Produces a Moderately Severe α-Thalassemia Phenotype