Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a Variant Hemoglobin Associated with Normal Hematology

Jill Finlayson Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, AustraliaCorrespondence[email protected]

Reza Ghassemifar Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia

Paula Holmes Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia

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

Lisa Figliomeni Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia

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

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

Michael Kersten Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia

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

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

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

John Beilby Department of Diagnostic Molecular Genetics, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Nedlands, WA, Australia

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Abstract

Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.

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Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a Variant Hemoglobin Associated with Normal Hematology

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Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a Variant Hemoglobin Associated with Normal Hematology

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