Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

Llaudet-Planas, Esther; Corrons, Joan Lluís Vives i; Rizzuto, Valeria; Gómez-Ramírez, P.; Sevilla, Julián; Sibina, María Teresa Coll; García-Bernal, M.; Llobet, Anna Ruiz; Badell, Isabel; Velasco, Pablo; Dapena, José Luís; Mañú-Pereira, M. M.

doi:10.1111/ijlh.12746

Cited by 65 publications

(62 citation statements)

References 38 publications

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“…RBC deformability at normoxic conditions is compromised in patients with SCD due to irreversibly sickled cells, as well as altered hydration causing a decrease in surface/volume ratio . Osmotic gradient ektacytometry, in which deformability is measured as a function of a continuous change in osmolarity, is a well‐established method, in particular in hereditary disorders of the red cell membrane . In SCD, osmotic gradient ektacytometry showed that increasing HbF induces a better surface‐to‐volume ratio thereby improving deformability in untransfused patients with SCD .…”

Section: Introductionmentioning

confidence: 99%

Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients

et al. 2019

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In sickle cell disease (SCD), sickle hemoglobin (HbS) polymerizes upon deoxygenation, resulting in sickling of red blood cells (RBCs). These sickled RBCs have strongly reduced deformability, leading to vaso‐occlusive crises and chronic hemolytic anemia. To date, there are no reliable laboratory parameters or assays capable of predicting disease severity or monitoring treatment effects. We here report on the oxygenscan, a newly developed method to measure RBC deformability (expressed as Elongation Index ‐ EI) as a function of pO2. Upon a standardized, 22 minute, automated cycle of deoxygenation (pO2 median 16 mmHg ± 0.17) and reoxygenation, a number of clinically relevant parameters are produced in a highly reproducible manner (coefficients of variation <5%). In particular, physiological modulators of oxygen affinity, such as, pH and 2,3‐diphosphoglycerate showed a significant correlation (respectively R = ‑0.993 and R = 0.980) with Point of Sickling (PoS5%), which is defined as the pO2 where a 5% decrease in EI is observed during deoxygenation. Furthermore, in vitro treatment with antisickling agents, including GBT440, which alter the oxygen affinity of hemoglobin, caused a reproducible left‐shift of the PoS, indicating improved deformability at lower oxygen tensions. When RBCs from 21 SCD patients were analyzed, we observed a significantly higher PoS in untreated homozygous SCD patients compared to treated patients and other genotypes. We conclude that the oxygenscan is a state‐of‐the‐art technique that allows for rapid analysis of sickling behavior in SCD patients. The method is promising for personalized treatment, development of new treatment strategies and could have potential in prediction of complications.

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Section: Introductionmentioning

confidence: 99%

Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients

et al. 2019

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“…A case in point is ektacytometry, which is a powerful tool for the diagnosis of DHS1. However, the co‐inheritance of conditions, such as beta‐thalassemia trait and splenectomy, may modify the ektacytometry curve shape thereby leading to a misdiagnosis (Da Costa et al , ; Lazarova et al , ; Huisjes et al , ; Zaninoni et al , ; Llaudet‐Planas et al , ). The flow‐cytometric osmotic fragility test is a new method for the diagnosis of HS, HE and DHS in combination with eosin‐5'‐maleimide testing.…”

Section: New Insights Into the Diagnosis Of Red Cell Membrane Disordersmentioning

confidence: 99%

Advances in understanding the pathogenesis of red cell membrane disorders

2019

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Summary Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened erythrocyte survival. Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) altered membrane transport function (overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis or xerocytosis, familial pseudohyperkalaemia and cryohydrocytosis). Herein we provide a comprehensive review of the recent literature on the molecular genetics of erythrocyte membrane defects and their reported clinical consequences. We also describe the effect of low‐expression genetic variants on the high inter‐ and intra‐familial phenotype variability of erythrocyte structural defects.

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“…The diagnosis of HS is based on the triad: (1) anaemia with jaundice, (2) severe splenomegaly and (3) spherocytosis, easily demonstrated by the peripheral blood morphological examination ( Figure 5). Currently the diagnosis of HS can be easily performed by measuring RBC deformability and osmotic gradient ektacytometry (OGE) using the new generation LoRRca Osmoscan from Mechatronics [27]. Curves obtained with this device allow a clear distinction between hereditary spherocytosis and the other RBC hereditary membranopathies, elliptocytosis and xerocytosis ( Figure 6).…”

Section: Membranopathiesmentioning

confidence: 99%

The Rare Anaemias

Vives‐Corrons¹

2020

Rare Diseases

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Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

Abstract: Introduction: New generation osmotic gradient ektacytometry has become a powerful

Cited by 65 publications

References 38 publications

Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients

Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients

Advances in understanding the pathogenesis of red cell membrane disorders

The Rare Anaemias

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