Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis

Marina Lanciotti, Paolo Perutelli, Angelo Valetto, Daniela Di Martino, Pier Giorgio Mori

Research output: Contribution to journalArticlepeer-review

Abstract

Background and Methods. Hereditary spherocytosis (HS) is one of the most common hereditary hemolytic anemias in Caucasians. The primary defect resides in red blood cell (RBC) membrane skeleton proteins. Using polyacrylamide gel electrophoresis and densitometric quantitation of solubilized skeleton membrane proteins we investigated biochemical abnormalities in 20 Italian kindreds. Results and conclusions. We detected an ankyrin deficiency combined with decreases in both spectrin and protein 4.2 as the most common defects in our HS patients. Reticulocytosis may strongly influence ankyrin evaluation. An isolated spectrin deficiency was present in 15% of patients and combined band 3 and protein 4.2 deficiencies were also detected. These results underline the importance of ankyrin in the pathogenesis of HS and point out the extreme heterogeneity of molecular defects in the disease.

Original languageEnglish
Pages (from-to)460-462
Number of pages3
JournalHaematologica
Volume82
Issue number4
Publication statusPublished - Jul 1997

Keywords

  • Ankyrin
  • Band 3
  • Hereditary spheroptosis
  • Protein 4.2
  • Spectrin

ASJC Scopus subject areas

  • Hematology

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