title: Hb Lake Tapawingo [α46(CE4)Phe→Ser; HBA2:c.140T>C]: a new unstable α chain hemoglobin variant associated with low systemic arterial saturation.
abstract: A new unstable α-globin variant was detected in a child with hypoxemia and anemia. The child's mother was found to carry the same mutation. The hemoglobin (Hb) variant co-eluted with Hb A(2) by cation exchange high performance liquid chromatography (HPLC) and appeared cathodal to Hb A and anodal to Hb F by isoelectric focusing. It represented less than 20% of the total Hb and was unstable by isopropanol testing. Gene sequencing identified a missense mutation on the α2 gene [HBA2:c.140T>C]. Oxygen dissociation and P(50) test results were normal.
authors.affiliation: Department of Pediatrics, Division of Hematology/Oncology, Children's Mercy Hospital and Clinics, Kansas City, Missouri 64108, USA. eguest@cmh.edu
authors.forename: Erin M
authors.initials: EM
authors.lastname: Guest
authors.forename: Kathleen A
authors.initials: KA
authors.lastname: Neville
authors.forename: James D
authors.initials: JD
authors.lastname: Hoyer
authors.forename: Martin K
authors.initials: MK
authors.lastname: Safo
authors.forename: Uttam
authors.initials: U
authors.lastname: Garg
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Saunders
authors.forename: Osheiza
authors.initials: O
authors.lastname: Abdulmalik
authors.forename: David L
authors.initials: DL
authors.lastname: Zwick
mesh_terms: D000740:Anemia / Q000235:genetics / Q000378:metabolism; D001665:Binding Sites; D002648:Child; D002851:Chromatography, High Pressure Liquid; D006418:Heme / Q000031:analogs & derivatives / Q000737:chemistry / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D000860:Hypoxia / Q000235:genetics / Q000378:metabolism; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary; D055542:alpha-Globins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C027728:heme a; D006418:Heme