Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.

Abstract

Inherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations in genes encoding various RBC membrane and skeletal proteins. The RBC membrane, a composite structure composed of a lipid bilayer linked to a spectrin/actin-based membrane skeleton, confers upon the RBC unique features of deformability and mechanical stability. The disease severity is primarily dependent on the extent of membrane surface area loss. RBC membrane disorders can be readily diagnosed by various laboratory approaches that include RBC cytology, flow cytometry, ektacytometry, electrophoresis of RBC membrane proteins and genetics. The reference technique for diagnosis of RBC membrane disorders is the osmotic gradient ektacytometry. However, in spite of its recognition as the reference technique, this technique is rarely used as a routine diagnosis tool for RBC membrane disorders due to its limited availability. This may soon change as a new generation of ektacytometer has been recently engineered. In this review, we describe the workflow of the samples shipped to our Hematology laboratory for RBC membrane disorder analysis and the data obtained for a large cohort of French patients presenting with RBC membrane disorders using a newly available version of the ektacytomer.

• Authors: Lydie Da Costa, Ludovic Suner, Julie Galimand, Amandine Bonnel, Tiffany Pascreau, Nathalie Couque, Odile Fenneteau, Narla Mohandas, Society of Hematology and Pediatric Immunology (SHIP) group, French Society of Hematology (SFH)
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 56 Issue 1 Pg. 9-22 (Jan 2016) ISSN: 1096-0961 [Electronic] United States
• PMID: 26603718 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Topics

• Adolescent
• Child
• Child, Preschool
• Equipment Design
• Erythrocyte Deformability
• Erythrocyte Indices
• Erythrocyte Membrane (pathology)
• Female
• Hematologic Tests (instrumentation)
• Humans
• Infant
• Male
• Spherocytosis, Hereditary (diagnosis, pathology)