title: Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity.
abstract: A novel hemoglobin (Hb) variant was found in a specimen that showed an unusual profile in analyses of glycohemoglobin An abnormal beta-globin, 443 Da smaller than normal beta-globin, was detected by electrospray ionization mass spectrometry (ESI/MS) with intact globin. Mass spectrometry analysis of tryptic peptides derived from isolated abnormal Hb showed an abnormal peptide, characterized as betaT- 14 (141Leu-->Val and 144Lys-->0). Nucleotide sequencing revealed a heterozygosity of codon 141 CTG(Leu)-->GTG(Val), and codon 144 AAG(Lys)-->TAG(stop codon). The isopropanol stability test was normal. We named this novel variant Hb Kochi for the district where it was found. Functional studies carried out on diluted whole hemolysates and isolated Hb components from the proband demonstrated an increased oxygen affinity, consistent with the existence of mild erythrocytosis.
authors.affiliation: Department of Clinical Pathology, Osaka Medical College, Takatsuki, Osaka, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Miyazaki
authors.forename: Toyofumi
authors.initials: T
authors.lastname: Nakanishi
authors.forename: Akira
authors.initials: A
authors.lastname: Shimizu
authors.forename: Miki
authors.initials: M
authors.lastname: Mizobuchi
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yamada
authors.forename: Kiyohiro
authors.initials: K
authors.lastname: Imai
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008875:Middle Aged; D010100:Oxygen / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics*; D011086:Polycythemia / Q000235:genetics / Q000378:metabolism*; D011485:Protein Binding / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C502557:hemoglobin Kochi; D010100:Oxygen