Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Costa, Lydie Da; Galimand, Julie; Fenneteau, Odile; Mohandas, Narla

doi:10.1016/j.blre.2013.04.003

Cited by 307 publications

(348 citation statements)

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“…16 HPP patients show marked splenomegaly, and splenectomy is therefore usually recommended. There is a strong association between HE and HPP.…”

Section: A B C Dmentioning

confidence: 99%

“…10 In HS the characteristic features of ektacytometry are: decreased DI max, in conjunction with a shift of the Omin point to the right (reduced surface to volume ratio), and a shift of the O' or hyper point to the left (increased dehydration of the red cells) (Figure 3). 16 As a third-line of investigation, the analysis of major erythrocyte membrane proteins via SDS-PAGE still represents invaluable support for the identification of different subsets of HS patients; however, several subjects remain unclassified by this technique. As discussed later in this review, the current availability of advanced genomic surveys, such as next generation sequencing (NGS) technologies, allows one to overcome the limitations of previous analytic methods.…”

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confidence: 99%

“…15 The diagnosis of HS is based on clinical features, positive familial history and the observation of a peripheral blood (PB) smear, in which a variable percentage of spherocytes, related to the degree of anemia, mushroom red cells, poikilocytosis, acanthocytes and ovalostomatocytes can be found (Figure 2). 16 The diagnostic guidelines of HS from the British Committee for Standards in Haematology do not recommend any additional tests for patients with classical clinical features and laboratory data. 17 Whenever necessary, indirect tests can also be performed.…”

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confidence: 99%

“…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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“…16 HPP patients show marked splenomegaly, and splenectomy is therefore usually recommended. There is a strong association between HE and HPP.…”

Section: A B C Dmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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New insights on hereditary erythrocyte membrane defects

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“…The most frequently affected genes are those encoding the membrane proteins ankyrin, band 3, and spectrin. (6) Modifications of the genes encoding protein 4.2, the RH complex and cases with so far undefined defects are less frequent. Seventy percent of all people affected by hereditary spherocytosis suffer from an autosomaldominant trait, while only 15 percent have an autosomal-recessive inheritance.…”

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confidence: 99%

Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review

Manciu¹,

Matei²,

Trandafir³

2017

chr

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RezumatSferocitoza ereditarã este o maladie congenitalã, caracterizatã prin anemie hemoliticã, ce afecteazã membranele eritrocitelor. Manifestãrile clinice variazã de la forme aproape asimptomatice la forme severe, ce necesitã transfuzii. Diagnosticul se bazeazã pe examenul clinic, hemograma cu numãrul reticulocitelor, prezenţa unui istoric familial şi teste de laborator specific, cum ar fi testul EMA (eosin-5-maleimide binding test) sau testul AGLT (Acidified Glycerol Lysis Time). Splenectomia este consideratã tratamentul standard în formele moderate pânã la severe de boalã. Totuşi, este cunoscut faptul cã splenectomia totalã expune pacientul la complicaţii infecţioase, uneori letale, ceea ce a determinat indicarea acestei metode cu precauţie. Astfel splenectomia subtotalã sau parţialã a devenit o alternativã de tratament fezabilã. Aceasta reduce distrugerea eritrocitelor, în timp ce conservã funcţia imunã a splinei. Majoritatea studiilor au arãtat beneficii certe, pe termen scurt, dupã splenectomie, în cazul acestor pacienţi. Totuşi, pânã în prezent, rezultate pe termen lung certe, adicã pe o perioadã de peste 5 ani de urmãrire postoperatorie, încã lipsesc.Cuvinte cheie: sferocite, hemoliză, citometrie în flux, splenectomie, rezultate pe termen lung AbstractHereditary spherocytosis (HS) is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias. The clinical spectrum ranges from asymptomatic patients to severe forms requiring transfusions in early childhood. The diagnosis can be based on the physical examination, complete red blood cell count, reticulocytes count, medical history and specific tests, preferentially the EMA test (eosin-5-maleimide binding) test and AGLT (Acidified Glycerol Lysis Time). Splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis. Total splenectomy exposes the patient to a life -long risk of potentially lethal infections and thus, its usage was reconsidered. Because of this reason, a feasible alternative is the partial splenectomy. The use of partial splenectomy aims to retain splenic immunologic function, while at the same time to decrease the rate of hemolysis. The long -term outcomes of patients with total or subtotal splenectomy for congenital hemolytic anemia, still remain unclear, but the majority of the studies showed a qualitative resolution of anemia and reduction of transfusion rate. Despite the well known advantages of conservative surgery, the optimal choice of treatment and outcomes should be confirmed with the patient.

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Red cell disorders: anaemia, jaundice, polycythaemia and cyanosis

2022

Neonatal Haematology

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Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders

Cited by 307 publications

References 124 publications

New insights on hereditary erythrocyte membrane defects

New insights on hereditary erythrocyte membrane defects

Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review

Red cell disorders: anaemia, jaundice, polycythaemia and cyanosis

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