Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity

Am J Hematol. 2004 Nov;77(3):268-76. doi: 10.1002/ajh.20184.

Abstract

Hemoglobin (Hb) Bassett, an abnormal Hb variant with a markedly reduced oxygen affinity, was discovered in a Caucasian (Anglo-Saxon) male child who experienced episodes of cyanosis. Cation-exchange and reversed-phase (RP) high-performance liquid chromatography (HPLC) showed that the patient has an abnormal Hb, with a mutation in the alpha-globin. Tryptic peptide digest of the abnormal alpha-globin with subsequent HPLC analysis revealed abnormal elution of the alpha-T11 peptide. Further studies with Edman sequencing and electrospray mass spectrometry of tryptic peptide alpha-T11, as well as structural analysis by X-ray crystallography revealed an Asp-->Ala substitution at the alpha94 (G1) position, a match for Hb Bassett. Detailed functional studies showed that this Hb variant had a markedly reduced oxygen affinity (P(50) at pH 7.0 = 22 mmHg; Hb A P(50) = 10.5 mmHg), reduced Bohr effect (-0.26 compared to - 0.54 in Hb A), and low subunit cooperativity (n = 1.4, compared to 2.6 in Hb A). X-ray crystallography results explain the probable effects of the structural modification on the oxygen-binding properties of this Hb variant.

Publication types

  • Comparative Study

MeSH terms

  • Alanine / genetics
  • Amino Acid Substitution
  • Aspartic Acid / genetics
  • Child
  • Chromatography, Ion Exchange / methods
  • Crystallography, X-Ray
  • Hemoglobin A / metabolism
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism*
  • Humans
  • Hydrogen-Ion Concentration
  • Male
  • Models, Molecular
  • Mutation
  • Oxygen / blood*
  • Oxygen / chemistry
  • Oxyhemoglobins / chemistry
  • Oxyhemoglobins / genetics*
  • Oxyhemoglobins / metabolism*
  • Partial Pressure
  • Protein Subunits / chemistry
  • Protein Subunits / metabolism

Substances

  • Hemoglobins, Abnormal
  • Oxyhemoglobins
  • Protein Subunits
  • Aspartic Acid
  • Hemoglobin A
  • Alanine
  • Oxygen