ฉันรักแInherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations ingenes encoding various RBC membrane and skeletal proteins. The RBC membrane, a composite structure composed of a lipid bilayer linked to a spectrin/actin-based membraneskeleton,confersupontheRBCuniquefeaturesofdeformabilityandmechanicalstability.Thedisease 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, electrophoresisofRBCmembraneproteinsandgenetics.ThereferencetechniquefordiagnosisofRBCmembrane disordersistheosmoticgradientektacytometry.However,inspiteofitsrecognition asthe reference technique, thistechniqueisrarelyusedasaroutinediagnosistoolforRBCmembranedisordersduetoitslimitedavailability. This may soon change as a new generation of ektacytometer has been recently engineered. In this review, we describetheworkflowofthesamplesshippedtoourHematologylaboratoryforRBCmembranedisorderanalysis and the data obtained for a large cohort of French patients presenting with RBC membrane disorders using a newly available versionof the ektacytomer. © 2015 Elsevier Inc. All rights reserved.
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Ek is lief t Geërf rooibloedselle (RBS) membraan versteurings, soos oorerflike sferositose, elliptocytosis en oorerflike ovalocytosis, as gevolg van mutasies ingenes enkodeer verskeie RBC membraan en skeletale proteïene. Die RBC membraan, 'n saamgestelde struktuur bestaan uit 'n lipied Dubbellaagvesikal gekoppel aan 'n. Spectrin / aktien - gebaseer Membraneskeleton, is hoofsaaklik afhanklik van die mate ConfersupontheRBCuniquefeaturesofdeformabilityandmechanicalstability.Thedisease Erns van die verlies Area membraan oppervlak RBC membraan versteurings kan maklik gediagnoseer word deur Laboratory Verskeie benaderings wat RBC sitologie, in te sluit. FL OW cytometry, Ektacytometry, ElectrophoresisofRBCmembraneproteinsandgenetics.ThereferencetechniquefordiagnosisofRBCmembrane Disordersistheosmoticgradientektacytometry. egter Inspiteofitsrecognition asthe verwysingstegniek, ThistechniqueisrarelyusedasaroutinediagnosistoolforRBCmembranedisordersduetoitslimitedavailability. Dit kan binnekort verander as 'n nuwe generasie van Ektacytometer is onlangs Ontwikkel. In hierdie oorsig, het ons Describethework FL OwofthesamplesshippedtoourHematologylaboratoryforRBCmembranedisorderanalysis en die data verkry vir 'n groot groep van die Franse pasiënte presenteer met RBC membraan versteurings met behulp van 'n. nuwe beskikbare versionof die Ektacytomer. © 2015 Elsevier Inc Alle regte voorbehou. Ps.
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