title: A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].
abstract: A 2½-year-old male child and a 23-year-old woman with no clinical symptoms were investigated during routine consultations. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting before Hb A. DNA sequencing showed a novel heterozygous mutation at codon 20 of the α1-globin gene. The hemoglobin (Hb) variant was named Hb Brugg. Analysis of oxygen affinity Hb and Hb stability did not show any changes compared to normal Hb constellation.
authors.affiliation: Division of Haematology, University Children's Hospital, Zürich, Switzerland.
authors.forename: Mattia
authors.initials: M
authors.lastname: Rizzi
authors.forename: Karin
authors.initials: K
authors.lastname: Zurbriggen
authors.forename: Marlis
authors.initials: M
authors.lastname: Schmid
authors.forename: Jeroen S
authors.initials: JS
authors.lastname: Goede
authors.forename: Michael A
authors.initials: MA
authors.lastname: Nardi
authors.forename: Markus
authors.initials: M
authors.lastname: Schmugge
authors.forename: Oliver
authors.initials: O
authors.lastname: Speer
mesh_terms: D001667:Binding, Competitive; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism; D011485:Protein Binding; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C568629:hemoglobin Brugg; D010100:Oxygen