Hematologically important mutations: ankyrin variants in hereditary spherocytosis

Blood Cells Mol Dis. Nov-Dec 2005;35(3):345-7. doi: 10.1016/j.bcmd.2005.08.008. Epub 2005 Oct 11.

Abstract

The primary defect in the hereditary spherocytosis (HS) syndromes is a qualitative or quantitative alteration in one or more erythrocyte membrane proteins. Mutation of the erythrocyte membrane protein ankyrin are the most common cause of typical, dominant HS. Ankyrin mutations also cause nondominant spherocytosis due to ankyrin gene promoter or de novo mutations. In most cases, HS-related ankyrin mutations are private. A summary of reported HS-associated ankyrin gene mutations is provided in this report.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Ankyrins / genetics*
  • Erythrocyte Membrane / metabolism
  • Genetic Variation / genetics*
  • Humans
  • Mutation*
  • Spherocytosis, Hereditary / genetics*

Substances

  • Ankyrins