A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]

Hemoglobin. 2011;35(4):417-22. doi: 10.3109/03630269.2011.594138.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Binding, Competitive
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Heterozygote
  • Humans
  • Male
  • Mutation, Missense*
  • Oxygen / metabolism
  • Protein Binding
  • Young Adult
  • alpha-Globins / genetics*
  • alpha-Globins / metabolism

Substances

  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Brugg
  • Oxygen