Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland

Ann Hematol. 2004 Jan;83(1):28-33. doi: 10.1007/s00277-003-0739-5. Epub 2003 Sep 27.

Abstract

Red blood cells of 17 patients out of seven families diagnosed with HS from the southwest of Poland were studied. In six families a deficiency of ankyrin was detected, and in one family a band 3 (anion-exchanger protein) deficiency was detected. Patients from six families with the ankyrin deficiency had a 19-51% decrease in ankyrin 2.1, while the family with the band 3 deficiency showed a 33% decrease in this protein content. All changes were statistically significant, as analysed by the Student t test (P<0.05). Analysis of haemolysis kinetics gives a reliable indication of altered osmotic properties of the spherocytic cells.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Anion Exchange Protein 1, Erythrocyte / deficiency*
  • Ankyrins / blood*
  • Ankyrins / deficiency
  • Blood Protein Electrophoresis
  • Child
  • Erythrocyte Membrane / metabolism
  • Erythrocytes / chemistry
  • Family
  • Hemolysis
  • Humans
  • Middle Aged
  • Poland
  • Spherocytosis, Hereditary / blood*

Substances

  • Anion Exchange Protein 1, Erythrocyte
  • Ankyrins