Hb Graz or alpha 2 beta 2(2)(NA2)His-->Leu; a new beta chain variant observed in four families from southern Austria

Hemoglobin. 1992;16(6):493-501. doi: 10.3109/03630269208993117.

Abstract

Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolated beta chains and sequence analysis of amplified DNA identified a new variant, i.e. Hb Graz that has a His-->Leu replacement at position 2 of the beta chain, in four healthy, apparently unrelated, adults. The second variant was identical to Hb Sherwood Forest or alpha 2 beta 2(104)(G6)Arg-->Thr; it is believed that this may be the second observation of this abnormal hemoglobin.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Austria / epidemiology
  • Base Sequence
  • Genetic Variation / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote*
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Peptide Fragments / genetics*

Substances

  • Hemoglobins, Abnormal
  • Peptide Fragments
  • hemoglobin Graz
  • hemoglobin Sherwood Forest