Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

Bianchi, Paola; Fermo, Elisa; Vercellati, Cristina; Marcello, Anna Paola; Porretti, Laura; Cortelezzi, Agostino; Barcellini, Wilma; Zanella, Alberto

doi:10.3324/haematol.2011.052845

Cited by 152 publications

(163 citation statements)

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“…Iron supplementation should not be given unless there is additional evidence of deficiency. In the first year of life, erythropoietin treatment may be beneficial and may lower transfusion requirements [27,28]. Splenectomy is very effective in reducing hemolysis, leading to significant prolongation (although not necessarily to normal) of the red cell lifespan [29,30].…”

Section: Discussionmentioning

confidence: 99%

Hereditary Spherocytosis: Evaluation of 68 Children

Konca

Söker

Taş

et al. 2014

Indian J Hematol Blood Transfus

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To determine the clinical and hematologic features of 68 children with hereditary spherocytosis (HS). In this retrospective study, we analyzed recorded information of 68 HS patients diagnosed between March 1997 and March 2007, including clinical manifestations at admission, gender, median age at diagnosis, family history, hematologic and biochemical data, patient management, complications, median age of splenectomy, and median follow-up time. Sixty-eight patients with HS (36 male and female) were investigated. The median age at diagnosis was 5.6 years (range 3 months to 18 years). Twenty-seven (39.7 %) had parents with consanguineous marriages, and 20 (29.4 %) had parents with first-degree consanguinity. Predominant clinical manifestations at admission were anemia in 59 patients (86.76 %), splenomegaly in 49 (72.05 %), and jaundice in 33 (48.52 %). Patients were classified as mild, moderate, or severe in 29.4, 61.7, and 8.8 % of patients, respectively. Five patients (7.3 %) underwent splenectomy. Major complications of HS were hemolytic, aplastic, and megaloblastic crises and cholelithiasis in 7 (10.2 %), 1 (1.4 %), 7 (10.2 %), and 6 (8.8 %) of patients, respectively. There were no deaths during follow-up. HS should be considered in evaluating possible diagnoses in patients with hemolytic anemia. In this study, the clinical course of patients with HS was relatively benign, with low proportions of patients having splenectomized and aplastic crises.

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Section: Discussionmentioning

confidence: 99%

Hereditary Spherocytosis: Evaluation of 68 Children

Konca

Söker

Taş

et al. 2014

Indian J Hematol Blood Transfus

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“…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. 19 Ektacytometry is a highly sensitive test of membrane deformability. 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).…”

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confidence: 99%

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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“…41 Sin embargo, ninguna de estas pruebas puede detectar el 100% de los pacientes. 6,13,50,[55][56][57] La fragilidad osmótica eritrocitaria (FOE), que da resultados positivos en aproximadamente 80% de los pacientes, 8,15,58 es aún considerada el "patrón oro" por algunos autores, 50,55,59 realizada simultáneamente con la autohemólisis (AH), aunque no sirve para diferenciar ESH de la esferocitosis secundaria a otras patologías, como anemia hemolítica autoinmune (AHAI), enfermedad hemolítica del recién nacido por incompatibilidad ABO (EHRN-ABO) o eliptocitosis hereditaria esferocítica. 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.…”

Section: Figura 3 Prevalencia De Deficiencias De Proteínas De Membraunclassified

“…Su sensibilidad y especificidad son similares a las de la FOE, pero aún existen controversias relativas a su utilidad. 56,72,73 Criohemólisis hipertónica: Evalúa la hemólisis de los eritrocitos suspendidos en un medio hipertónico, a los que se somete a un brusco cambio de temperatura. En estas condiciones, los esferocitos son más susceptibles a la hemólisis que los eritrocitos normales.…”

Section: Prueba De Autohemólisisunclassified

“…60 La prueba es indudablemente positiva para ESH si presenta una disminución de fluorescencia superior al 21%; sin embargo, el valor de corte a partir del cual la prueba es considerada negativa es variable, por lo que cada laboratorio debe establecer su propio valor. 8,56,60,74 Fragilidad osmótica eritrocitaria por citometría de flujo: Esta prueba cuantifica los eritrocitos resistentes a la hemólisis que se genera por el agregado de agua a una suspensión de sangre en solución fisiológica. Es decir que se evalúa el porcentaje de eritrocitos remanentes, en lugar de evaluar la hemólisis producida en el medio hipotónico.…”

Section: Prueba De Autohemólisisunclassified

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