Hb Villaverde [beta 89 (F5) Ser-->Thr]: the structural modification of an intrasubunit contact is responsible for a high oxygen affinity

Biochim Biophys Acta. 1993 Nov 25;1225(1):89-94. doi: 10.1016/0925-4439(93)90127-m.

Abstract

Hb Villaverde [beta 89 (F5) Ser-->Thr], identified in a Spanish patient, is a new human hemoglobin variant, electrophoreticaly silent, responsible for a severe erythrocytosis. This abnormal hemoglobin displays a very high oxygen affinity and a markedly reduced cooperativity that is partly restored in the presence of IHP. Determination of the structural abnormality was achieved on a mixture of the normal and abnormal beta-chains. After isolation of the abnormal tryptic peptide by RP-HPLC, its sequence was determined by mass spectrometry. The structural abnormality disturbs the intrasubunit interaction between helices F and H and, thus, may weaken the C-terminal bonds of the deoxy conformation and the heme contacts of several hydrophobic residues. Hb Villaverde demonstrates that this intrasubunit contact between helices F and H is essential for the cohesion of the hemoglobin molecule.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Blood Cell Count
  • Child, Preschool
  • Hematocrit
  • Hemoglobins, Abnormal / chemistry*
  • Hemoglobins, Abnormal / genetics
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Male
  • Mass Spectrometry
  • Molecular Sequence Data
  • Oxygen / chemistry*
  • Peptide Fragments / chemistry
  • Polycythemia / blood*
  • Polycythemia / genetics
  • Serine
  • Threonine
  • Trypsin

Substances

  • Hemoglobins, Abnormal
  • Peptide Fragments
  • Threonine
  • Serine
  • Trypsin
  • Oxygen