title: 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.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France; Univ Paris Diderot, Sorbonne Paris Cité, Paris F-75010, France; INSERM U1149, CRI, Faculté de Médecine Bichat-Claude Bernard, F-75019, France; Laboratoire d'Excellence GR-Ex, France. Electronic address: lydie.dacosta@rdb.aphp.fr.
authors.forename: Lydie
authors.initials: L
authors.lastname: Da Costa
authors.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Ludovic
authors.initials: L
authors.lastname: Suner
authors.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Galimand
authors.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Bonnel
authors.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Pascreau
authors.affiliation: AP-HP, Département de Génétique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Couque
authors.affiliation: AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris F-75019, France.
authors.forename: Odile
authors.initials: O
authors.lastname: Fenneteau
authors.affiliation: Red Cell physiology laboratory, New York Blood Center (NYBC), New York, USA.
authors.forename: Narla
authors.initials: N
authors.lastname: Mohandas
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004867:Equipment Design; D004907:Erythrocyte Deformability; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000473:pathology*; D005260:Female; D006403:Hematologic Tests / Q000295:instrumentation*; D006801:Humans; D007223:Infant; D008297:Male; D013103:Spherocytosis, Hereditary / Q000175:diagnosis* / Q000473:pathology
keywords: EMA; Ektacytometer; LoRRca; Red blood cell membrane; Spherocytosis