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

Jennifer L. Oliveiraa, Kenneth Swansona, Patricia Wendta, Thomas D. Caugheyb & James D. Hoyer*aa Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USAb Department of Hematology/Oncology, Mount Auburn Hospital, Harvard Medical School, Cambridge, Massachusetts, USAAddress correspondence to James D. Hoyer, M.D., Department of Laboratory Medicine and Pathology, Mayo Clinic, 816 Hilton Building, 200 First Street SW, Rochester, MN 55905, USA; Tel: +507-284-1143; Fax: +507-284-5115; E-mail: jhoyer@mayo.eduA 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.