Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis

Acta Haematol. 1998;100(4):200-3. doi: 10.1159/000040904.

Abstract

We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient's band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 (ACG-->GCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alanine / genetics
  • Amino Acid Substitution / genetics*
  • Anion Exchange Protein 1, Erythrocyte / deficiency
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Humans
  • Male
  • Point Mutation
  • Spherocytosis, Hereditary / blood
  • Spherocytosis, Hereditary / genetics*
  • Threonine / genetics

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Threonine
  • Alanine