Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5913386 | Blood Cells, Molecules, and Diseases | 2016 | 14 Pages |
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.
Keywords
PBShereditary elliptocytosisHereditary stomatocytosisDHSTAuto-immune hemolytic anemiaHSTSAOOHSAIHAMCVCBCMgGGPiDATCDARBCPVPRDWEMAHPPMFIG6PDcongenital dyserythropoietic anemiaEDTAHereditary spherocytosisSpherocytosisethylenediamine tetraacetic acidstandard deviationEktacytometerDirect agglutination testMean corpuscular volumeelongation indexcomplete blood countCoefficient of VariationRed blood cell distribution widthRed blood cell membranelactate dehydrogenaseLDHMHCPhosphate-buffered salinemean fluorescence intensityHemoglobinpolyvinylpyrrolidonepyruvate kinasered blood cell
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Authors
Lydie Da Costa, Ludovic Suner, Julie Galimand, Amandine Bonnel, Tiffany Pascreau, Nathalie Couque, Odile Fenneteau, Narla Mohandas,