HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant

Hemoglobin. 1996 Feb;20(1):21-9. doi: 10.3109/03630269609027907.

Abstract

We describe a new alpha chain mutant accidentally found in a diabetic patient. The propositus is being treated for diabetes mellitus II with 4% glycated hemoglobin (Hb A1C). The variant, named Hb Gouda, is not detectable by starch gel electrophoresis but appears as a shoulder before the Hb A fraction during the chromatographic separation of Hb A1C. The hematological analysis revealed normal parameters with a normal serum iron value. No anomalies were reported in connection with Hb Gouda. The tryptic peptide map and sequencing of the alpha T-9 peptide revealed the substitution of a histidine by a glutamine at position 72. By selective amplification and sequencing of both the alpha genes, we have assigned the new mutation to the alpha 2 gene. Position 72 of the alpha chain is a moderately conserved site located between two non-conserved amino acids. This site is not involved in heme, dimer or tetramer contacts, or in Bohr effect or in 2,3-diphosphoglycerate binding.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Diabetes Mellitus, Type 2 / blood*
  • Female
  • Genetic Variation*
  • Globins / genetics*
  • Glutamine / chemistry*
  • Hemoglobins, Abnormal / genetics*
  • Histidine / chemistry*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Gouda
  • Glutamine
  • Histidine
  • Globins