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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 1
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Original Article

Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: A Unique High Oxygen Affinity Hemoglobin Variant with a Double Nucleotide Substitution within the Same Codon

James D. Hoyer Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USACorrespondence[email protected]
,
Patricia C Wendt Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
,
William J. Hogan Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA
&
Jennifer L. Oliveira Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
Pages 22-27 | Received 19 Aug 2010, Accepted 13 Sep 2010, Published online: 20 Jan 2011
 
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Abstract

A new high oxygen affinity hemoglobin (Hb) variant, Hb Nebraska [β86(F2)Ala→Ile, GCC>ATC; HGVS: HBB: c.259G>A;260C>T] is reported. This variant was not identified by routine methods and was only suspected due to erythrocytosis and an abnormal p50 value. The variant was analyzed by DNA sequencing and mass spectrometry (MS). The β chain variant is unusual in that it has two nucleotide substitutions occurring at the same codon.

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Related Research Data

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