title: Hemoglobin Columbia Missouri or alpha 2[88 (F9) Ala----Val]beta 2: a new high-oxygen-affinity hemoglobin that causes erythrocytosis.
abstract: A previously undescribed hemoglobin variant, hemoglobin Columbia Missouri, alpha 88 (F9) Ala----Val, was detected in a 22-year-old white man who was undergoing assessment for erythrocytosis. This new hemoglobin variant does not separate from hemoglobin A by electrophoresis in conventional media, by isoelectric focusing, or by electrophoresis of purified globin chains in 8 M urea. It exhibits a high oxygen affinity, with a P50 (oxygen tension at 50% saturation) of 19.3 torr for the patient's whole blood. The substitution of hemoglobin Columbia Missouri is an internal residue near the end of the F helix of the alpha chain. Hemoglobin Okazaki has an arginyl residue substitution for a cysteinyl residue at F9 (beta 93) in the beta chain. In comparison with hemoglobin Okazaki, the substitution in hemoglobin Columbia Missouri has a more pronounced effect on oxygen affinity. Consequently, hemoglobin Columbia Missouri is associated with erythrocytosis, whereas hemoglobin Okazaki is not.
authors.affiliation: Department of Medicine, University of Missouri Health Sciences Center, Columbia.
authors.forename: M C
authors.initials: MC
authors.lastname: Perry
authors.forename: C
authors.initials: C
authors.lastname: Head
authors.forename: V F
authors.initials: VF
authors.lastname: Fairbanks
authors.forename: R T
authors.initials: RT
authors.lastname: Jones
authors.forename: H
authors.initials: H
authors.lastname: Taylor
authors.forename: V
authors.initials: V
authors.lastname: Proud
mesh_terms: D000293:Adolescent; D000328:Adult; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D002845:Chromatography; D005260:Female; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011086:Polycythemia / Q000097:blood* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C066860:hemoglobin Columbia Missouri