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

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 histi...

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Main 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.
Format: Journal Article
Published: Taylor and Francis Ltd 2010
Online Access:http://hdl.handle.net/20.500.11937/24726
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author Finlayson, J.
Ghassemifar, Reza
Holmes, P.
Grey, D.
Figliomeni, L.
Newbound, C.
Pell, N.
Kersten, M.
Jennens, M.
Macaulay, C.
Greenwood, L.
Beilby, J.
author_facet Finlayson, J.
Ghassemifar, Reza
Holmes, P.
Grey, D.
Figliomeni, L.
Newbound, C.
Pell, N.
Kersten, M.
Jennens, M.
Macaulay, C.
Greenwood, L.
Beilby, J.
author_sort Finlayson, J.
building Curtin Institutional Repository
collection Online Access
description 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.
first_indexed 2025-11-14T07:53:51Z
format Journal Article
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institution Curtin University Malaysia
institution_category Local University
last_indexed 2025-11-14T07:53:51Z
publishDate 2010
publisher Taylor and Francis Ltd
recordtype eprints
repository_type Digital Repository
spelling curtin-20.500.11937-247262017-09-13T15:11:56Z Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>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. 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. 2010 Journal Article http://hdl.handle.net/20.500.11937/24726 10.3109/03630269.2010.526896 Taylor and Francis Ltd restricted
spellingShingle Finlayson, J.
Ghassemifar, Reza
Holmes, P.
Grey, D.
Figliomeni, L.
Newbound, C.
Pell, N.
Kersten, M.
Jennens, M.
Macaulay, C.
Greenwood, L.
Beilby, J.
Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title_full Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title_fullStr Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title_full_unstemmed Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title_short Hb East Timor [ß80(EF4)Asn?His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology
title_sort hb east timor [ß80(ef4)asn?his, aac>cac (hbb c.241a>c)], a variant hemoglobin associated with normal hematology
url http://hdl.handle.net/20.500.11937/24726