title: A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser-->Phe, TCC>TTC (alpha 2)].
abstract: A new alpha-globin mutation [alpha 138(H21)Ser-->Phe] was found in a 55-year-old male proband with an erythrocytosis known since his youth. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting slightly before Hb A indicating the presence of a variant. The peak area of the variant was approximately one-third that of Hb A suggesting an alpha-globin variant. Matrix-assisted laser desorption ionization-time-of-flight mass spectrometry analysis confirmed the mutation at the protein level. The variant is also detectable with isoelectric focusing and reversed phase HPLC. DNA analysis revealed a heterozygous sequence mutation at codon 138 of the alpha2 gene. A C>T transition at the second nucleotide of the codon indicated a Ser-->Phe exchange. The variant showed increased oxygen affinity and was named Hb Frauenfeld.
authors.affiliation: Department of Internal Medicine, Kantonsspital Frauenfeld, Frauenfeld, Switzerland.
authors.forename: Michel
authors.initials: M
authors.lastname: Hochuli
authors.forename: Karin
authors.initials: K
authors.lastname: Zurbriggen
authors.forename: Marlis
authors.initials: M
authors.lastname: Schmid
authors.forename: Oliver
authors.initials: O
authors.lastname: Speer
authors.forename: Philippe
authors.initials: P
authors.lastname: Rochat
authors.forename: Beat
authors.initials: B
authors.lastname: Frauchiger
authors.forename: Peter
authors.initials: P
authors.lastname: Kleinert
authors.forename: Markus
authors.initials: M
authors.lastname: Schmugge
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
mesh_terms: D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005192:Family Health; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D013058:Mass Spectrometry; D008875:Middle Aged; D010100:Oxygen / Q000378:metabolism*; D017354:Point Mutation; D011086:Polycythemia; D013557:Switzerland; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C540075:hemoglobin Frauenfeld; D010100:Oxygen