HB Les Andelys [alpha83(F4)LEU-->PRO]: a new moderately unstable variant

Hemoglobin. 1998 Mar;22(2):129-40. doi: 10.3109/03630269809092137.

Abstract

Hb Les Andelys [alpha83(F4)Leu-->Pro] is a mildly unstable variant that was found during glycated hemoglobin measurement in a French family. In this hemoglobin molecule the affected site, in the alpha chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable beta chain variant. The structural abnormality was demonstrated by protein chemistry methods, involving, in addition to the classical techniques, a selective precipitation of the abnormal hemoglobin by isopropanol and a mass spectrometry analysis of the alphaT-9 peptide following carboxypeptidase digestion. DNA sequencing demonstrated that the mutation was CTG-->CCG at codon 83 of the alpha2 gene.

MeSH terms

  • Amino Acid Sequence
  • Blood Protein Electrophoresis
  • Child
  • Chromatography, High Pressure Liquid
  • Chromatography, Ion Exchange
  • Codon / genetics
  • DNA Mutational Analysis
  • Diabetes Mellitus, Type 1 / blood
  • Female
  • Globins / genetics*
  • Glycated Hemoglobin / analysis
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics
  • Hemoglobins, Abnormal / isolation & purification*
  • Humans
  • Isoelectric Focusing
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • Protein Denaturation
  • Sequence Analysis, DNA

Substances

  • Codon
  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal
  • hemoglobin Les Andelys
  • Globins