Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) )

J Clin Invest. 1972 Sep;51(9):2380-7. doi: 10.1172/JCI107050.

Abstract

A presumably spontaneous mutation has resulted in the formation of Hemoglobin (Hb) Istanbul in which glutamine is substituted for histidine in the proximal position of the beta-chain (F8(92)). The anemia and other physiological effects that occur in the presence of Hb Istanbul were much ameliorated by splenectomy. Hb Istanbul is a relatively unstable molecule which produces a rather moderate case of "unstable hemoglobin hemolytic anemia."In the determination of structure, a method of preferential cleavage of an aspartyl-proline bond at residues 99-100 of the beta-chain was used.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amino Acids / blood
  • Chemical Phenomena
  • Chemistry
  • Chromatography, DEAE-Cellulose
  • Electrophoresis, Starch Gel
  • Glutamine / blood*
  • Hemoglobinopathies / genetics
  • Hemoglobinopathies / therapy
  • Hemoglobins, Abnormal / analysis*
  • Histidine / blood*
  • Hot Temperature
  • Humans
  • Hydrogen-Ion Concentration
  • Male
  • Molecular Weight
  • Mutation
  • Peptides / blood
  • Splenectomy
  • Tryptophan / blood

Substances

  • Amino Acids
  • Hemoglobins, Abnormal
  • Peptides
  • Glutamine
  • Histidine
  • Tryptophan