Hematologically important mutations: ankyrin variants in hereditary spherocytosis.

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.

• Authors: Patrick G Gallagher
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) 2005 Nov-Dec Vol. 35 Issue 3 Pg. 345-7 ISSN: 1079-9796 [Print] United States
• PMID: 16223590 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Ankyrins

Topics

• Ankyrins (genetics)
• Erythrocyte Membrane (metabolism)
• Genetic Variation (genetics)
• Humans
• Mutation
• Spherocytosis, Hereditary (genetics)