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]

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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Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A New High Oxygen Affinity Variant

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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

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