Hematologically important mutations: ankyrin variants in hereditary spherocytosis.
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.
Gallagher
Patrick G
PG
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208064, New Haven, CT 06520-8064, USA. patrick.gallagher@yale.edu
D017487:Ankyrins / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000378:metabolism; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013103:Spherocytosis, Hereditary / Q000235:genetics*
D017487:Ankyrins