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