Using the eosin‐5‐maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis

King, May‐Jean; Telfer, Paul; MacKinnon, Heather; Langabeer, Lisa; McMahon, Corrina; Darbyshire, P. J.; Dhermy, Didier

doi:10.1002/cyto.b.20413

Cited by 64 publications

(56 citation statements)

References 21 publications

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“…Among these, the eosin-5′-maleimide (EMA) binding test shows high sensitivity (92-93%) and specificity (nearly 99%), although a positive test can also be obtained in patients affected by related conditions, such as congenital dyserythropoietic anemia type II (CDA II). [16][17][18] Additional tests, such as the osmotic fragility (OF) test, acidified glycerol lysis test (AGLT) and the pink test, exhibit lower sensitivity compared to the EMA test (68%, 61% and 91%, Update of the red cell membrane disorders haematologica | 2016; 101(11) respectively). Nevertheless, the combination of the EMA and pink tests or those of the EMA and AGLT tests improves the sensitivity to 99% and 100%, respectively.…”

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New insights on hereditary erythrocyte membrane defects

et al. 2016

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© Ferrata Storti Foundationmary role in the removal of aged RBCs. In order to perform these journeys RBCs must possess and maintain a significant deformability. The main author of this property is certainly the membrane, that ensures both mechanical stability and deformability. After the first proposed model of the RBC membrane skeleton 36 years ago, 1 containing the core elements of the modern model, many additional proteins have been discovered during the intervening decades, and their structures and interactions have been defined. RBC membrane structure has been extensively covered by excellent reviews.2,3 Herein we summarize the main concepts. RBC membrane is composed by a fluid double layer of lipids in which approximately 20 major proteins and at least 850 minor ones are embedded. 4 The membrane is attached to an intracellular cytoskeleton by protein-protein and lipid-protein interactions that confer the erythrocyte shape, stability and deformability. The transmembrane proteins have mainly a transporter function. However, several of these also have a structural function, usually performed by an intracytoplasmic domain interacting with cytoskeletal proteins.The lipid bilayer acts as a barrier for the retention of cations and anions within the red cells, while it allows water molecules to pass through freely. Human erythrocytes have high intracellular K + and low intracellular Na + contents when compared with the corresponding ion concentrations in the plasma. The maintenance of this cation gradient between the cell and its environment involves a passive outward movement of K + , which is pumped back by the action of an ATP-dependent Na + /K + pump in exchange for Na+ ions. This protein belongs to a class of transmembrane proteins with a transport function (Figure 1). The third and more important component of the RBC membrane is the cytoskeleton, a protein network that laminates the inner surface of the membrane. Spectrin aand β-chains, proteins 4.1, or 4.1R, and actin are the main components of this skeleton, maintaining the biconcave shape of the RBC. These components are connected to each other in two protein complexes; ankyrin and protein 4.1 complex. The former is composed by band 3 tetramers, Rh, RhAG, CD47, glycophorin A and protein 4.2. Whereas the protein 4.1 complex is composed by band 3 dimers binding adducins a-and β-, glycophorin C, GLUT1 and stomatin (Figure 1). The ends of spectrin tetramers converge toward a protein 4.1 complex (junctional complex). Electron microscopy (EM) shows that this latter links the tail of six spectrin tetramers, forming a pseudo-hexagonal arrangement. 5Spectrin tetramers include anion transporters (band 3 or chloride/bicarbonate exchange). The capability of these transporters to form aggregates could define the half-life of RBCs, causing antibody binding and removal by the spleen. Defects that interrupt this vertical structure (spectrin-actin interaction) underlie the biochemical and molecular basis of hereditary spherocytosis (HS), whereas defects in horizo...

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New insights on hereditary erythrocyte membrane defects

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“…59,60 Actualmente, se dispone de nuevas pruebas diagnósticas, más específicas y sensibles, que presentan, además, la ventaja de requerir menor cantidad de sangre para el procesamiento. 8,[61][62][63][64][65] En nuestro país, algunas de estas -criohemólisis hipertónica (CH), citometría de flujo con 5'eosina maleimida (5'EMA-CF), FOE por citometría de flujo (FOE-CF)-se comenzaron a implementar a partir del año 2007.…”

Section: Figura 3 Prevalencia De Deficiencias De Proteínas De Membraunclassified

Esferocitosis hereditaria. Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico

Hematología¹,

Donato²,

Crisp³

et al. 2015

Arch Argent Pediat

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“…A decrease in mean fluorescence intensity of eosin-5-maleimide-tagged erythrocytes is associated with band 3 deficiency and red cell cytoskeleton disorders. 5,6 Genetic analysis of erythrocyte membrane proteins was performed by using HaloPlex (Agilent Technologies, Santa Clara, CA) for targeted gene capture and sequencing on a HiSeq 2000 system (Illumina, San Diego, CA). Briefly, DNA was fragmented by using restriction enzymes and then denatured.…”

Section: Casementioning

confidence: 99%

Acute Kernicterus in a Neonate With O/B Blood Group Incompatibility and a Mutation in SLC4A1

Christensen

Yaish²,

Nussenzveig

et al. 2013

Pediatrics

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We cared for a term female newborn, who at 108 hours of age, with a total serum bilirubin of 15.4 mg/dL, was discharged from the hospital on home phototherapy. At a return appointment 44 hours later, her total serum bilirubin was 41.7 mg/dL and signs of acute kernicterus were present. Maternal/fetal blood group O/B incompatibility was identified, with a negative direct antiglobulin test, which was positive on retesting. She had abundant spherocytes on blood smear, and these persisted at follow-up, but neither parent had spherocytes identified. A heterozygous SLC4A1E508K mutation (gene encoding erythrocyte membrane protein band 3) was found, and in silico predicted to result in damaged erythrocyte cytoskeletal protein function. No mutations were identified in other red cell cytoskeleton genes (ANK1, SPTA1, SPTB, EPB41, EPB42) and the UGT1A1 promoter region was normal. Neurologic follow-up at 2 and 4 months showed developmental delays consistent with mild kernicterus.

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Using the eosin‐5‐maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis

Cited by 64 publications

References 21 publications

New insights on hereditary erythrocyte membrane defects

New insights on hereditary erythrocyte membrane defects

Esferocitosis hereditaria. Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico

Acute Kernicterus in a Neonate With O/B Blood Group Incompatibility and a Mutation in SLC4A1

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