Hb East Timor [ß80(EF4)Asn?His, AAC&gt;CAC (HBB c.241A&gt;C)], a variant hemoglobin associated with normal hematology

Finlayson, J.; Ghassemifar, Reza; Holmes, P.; Grey, D.; Figliomeni, L.; Newbound, C.; Pell, N.; Kersten, M.; Jennens, M.; Macaulay, C.; Greenwood, L.; Beilby, J.

doi:10.3109/03630269.2010.526896

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Authors

Finlayson, J.

Ghassemifar, Reza

Holmes, P.

Grey, D.

Figliomeni, L.

Newbound, C.

Pell, N.

Kersten, M.

Jennens, M.

Macaulay, C.

Greenwood, L.

Beilby, J.

Date

2010

Type

Journal Article

Metadata

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Citation

Finlayson, J. and Ghassemifar, R. and Holmes, P. and Grey, D. and Figliomeni, L. and Newbound, C. and Pell, N. et al. 2010. Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology. Hemoglobin. 34 (6): pp. 561-564.

Source Title

Hemoglobin

DOI

10.3109/03630269.2010.526896

ISSN

0363-0269

School

School of Biomedical Sciences

URI

http://hdl.handle.net/20.500.11937/24726

Collection

Curtin Research Publications

Abstract

Routine hemoglobin (Hb) analyses identified a new ß-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. © 2010 Informa Healthcare USA, Inc.