Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis

Biochim Biophys Acta. 1980 Aug 21;624(2):473-8. doi: 10.1016/0005-2795(80)90088-4.

Abstract

Hemoglobin Pitie-Salpetriere was detected by routine isoelectric focusing. It moved up on isoelectric focusing between hemoglobin A and hemoglobin F, near Hb F. On cellulose acetate strips at pH 8.6, it moved as hemoglobin A. This new variant exhibits a high oxygen affinity associated with familial erythrocytosis. The valine residue in position beta 34 has been replaced by a phenylalanine residue. This residue is involved in the alpha 1 beta 1 contact.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Genetic Variation
  • Hemoglobins, Abnormal* / isolation & purification
  • Humans
  • Isoelectric Focusing
  • Male
  • Middle Aged
  • Oxygen / blood
  • Oxyhemoglobins*

Substances

  • Hemoglobins, Abnormal
  • Oxyhemoglobins
  • Oxygen