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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 6
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Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A New High Oxygen Affinity Variant

Jennifer L. Oliveira Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
,
Kenneth Swanson Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
,
Patricia Wendt Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
,
Thomas D. Caughey Department of Hematology/Oncology, Mount Auburn Hospital, Harvard Medical School, Cambridge, Massachusetts, USA
&
James D. Hoyer Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USACorrespondence[email protected]
Pages 565-571 | Received 26 Jul 2010, Accepted 18 Aug 2010, Published online: 15 Nov 2010
 
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Abstract

A new β hemoglobin (Hb) variant, Hb Cambridge-MA [β144(HC1)β146(HC3)Lys-Tyr-His→0 (AAG>TAG) (HGVS: HBB c.433 A>T] is described. The variant was characterized by high performance liquid chromatography (HPLC), alkaline, acid, globin chain and capillary electrophoresis, isoelectric focusing (IEF), heat and isopropanol stability, p50 analyses, intact globin mass spectrometry (MS) and DNA sequencing. The new variant shows high oxygen (O2) affinity and is associated with mild polycythemia.

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