Inherited red blood cell (RBC) memb

Inherited 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 membrane skeleton,confers upon the RBC unique features of deform ability 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,inspite of its recognition asthe 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 work flow 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 versionof the ektacytomer..

ผลลัพธ์ (แอฟริกา) 1:

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 RBC membraan versteurings kan maklik gediagnoseer word deur verskeie laboratorium benaderings wat RBC sitologie sluit, vloei cytometry, ektacytometry, elektroforese van RBC membraan proteïene en genetics.The verwysing tegniek vir die diagnose van RBS membraan versteurings is die osmotiese gradiënt ektacytometry.However, ten spyte van sy erkenning. asthe verwysing tegniek, is hierdie tegniek selde gebruik as 'n roetine diagnose instrument vir RBC membraan versteurings as gevolg van sy beperkte beskikbaarheid. Dit kan binnekort verander as 'n nuwe generasie van ektacytometer is onlangs ontwerp. In hierdie oorsig, beskryf ons die werk vloei van die wat gestuur word na ons hematologielaboratorium vir RBC membraan siekte ontleding van monsters en die data wat verkry is vir 'n groot groep van die Franse pasiënte presenteer met RBC membraan versteurings met behulp van 'n nuwe beskikbare versionof die ektacytomer ..