HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

Abstract
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease severity is primarily dependent on the extent of membrane surface area loss. Both these diseases can be readily diagnosed by various laboratory approaches that include red blood cell cytology, flow cytometry, ektacytometry, electrophoresis of the red cell membrane proteins, and mutational analysis of gene encoding red cell membrane proteins.
AuthorsLydie Da Costa, Julie Galimand, Odile Fenneteau, Narla Mohandas
JournalBlood reviews (Blood Rev) Vol. 27 Issue 4 Pg. 167-78 (Jul 2013) ISSN: 1532-1681 [Electronic] England
PMID23664421 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
CopyrightCopyright © 2013 Elsevier Ltd. All rights reserved.
Chemical References
  • Ankyrins
Topics
  • Ankyrins (blood, deficiency, genetics)
  • Elliptocytosis, Hereditary (blood, diagnosis, genetics)
  • Erythrocytes (pathology)
  • Humans
  • Spherocytosis, Hereditary (blood, diagnosis, genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: