Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin

Hemoglobin. 1998 Jan;22(1):11-22. doi: 10.3109/03630269809071513.

Abstract

Hb Godavari [alpha 95(G2)Pro-->Thr] was characterized independently in two families of different ethnic origin. The first case, found in the Netherlands, involved an Indian patient. The second one was identified a few months later in an African family from Mali, living in France. Hb Godavari is the fourth example of a substitution involving neutral residues at position alpha 95(G2). In all these variants the electrophoretic pattern suggested that the structural modification unmasks a charged residue buried in the alpha 1 beta 2 contact area. The oxygen affinity of this abnormal hemoglobin was approximately 10% higher than that of Hb A; in the absence of 2,3-diphosphoglycerate, its cooperativity was moderately decreased, suggesting a slightly unstable T state.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution / genetics*
  • Child, Preschool
  • Electrophoresis, Agar Gel
  • Electrophoresis, Cellulose Acetate
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism*
  • Hemoglobins, Abnormal / physiology
  • Humans
  • Infant
  • Isoelectric Focusing
  • Male
  • Oxygen / blood
  • Pedigree
  • Point Mutation*
  • Proline / genetics
  • Threonine / genetics

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Godavari
  • Threonine
  • Proline
  • Oxygen