title: Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: a new high oxygen affinity variant.
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.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Oliveira
authors.forename: Kenneth
authors.initials: K
authors.lastname: Swanson
authors.forename: Patricia
authors.initials: P
authors.lastname: Wendt
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Caughey
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
mesh_terms: D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D019075:Electrophoresis, Capillary; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007525:Isoelectric Focusing; D013058:Mass Spectrometry; D008875:Middle Aged; D010100:Oxygen / Q000378:metabolism; D017354:Point Mutation; D011086:Polycythemia / Q000235:genetics / Q000473:pathology; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C557563:hemoglobin Cambridge-MA; D010100:Oxygen