Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

Franco, Mélanie; Collec, Emmanuel; Connes, Philippe; Akker, Emile van den; Villemeur, Thierry Billette de; Belmatoug, Nadia; Lindern, Marieke von; Ameziane, Nejma; Hermine, Olivier; Colin, Yves; Kim, Caroline Le Van; Mignot, Cyril

doi:10.1182/blood-2012-07-442467

Cited by 39 publications

(43 citation statements)

References 45 publications

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“…The results obtained with this method in various diseases (diabetes, sepsis, Gaucher disease, etc) and situations (exercises) are usually in agreement with the results obtained with other methods, such as filtration or ektacytometry [6,18,[26][27][28]30], although filtration techniques may lack accuracy [3]. The mechanisms that lead to alterations in RBC deformability are slightly different between SS and SC disease [29], and SS patients are characterized by greater RBC alterations than SC patients [21,29].…”

Section: Discussionsupporting

confidence: 79%

“…Exercise may increase or decrease RBC deformability by 5-12% from baseline values, [11,14,16]. Finally, a number of studies found a 5-10% RBC deformability difference between healthy populations and several several non-erythroid diseases characterized by hemorheological disorders, which play a role in the pathophysiological mechanisms [18,34]. Moreover, the significant negative linear regression shows a tendency for the bias to become negative with increasing RBC deformability.…”

Section: Discussionmentioning

confidence: 99%

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Indirect viscosimetric method is less accurate than ektacytometry for the measurement of red blood cell deformability

Vent-Schmidt

Waltz

Pichon

et al. 2015

Clinical Hemorheology and Microcirculation

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The aim of this study was to test the accuracy of viscosimetric method to estimate the red blood cell (RBC) deformability properties. Thirty-three subjects were enrolled in this study: 6 healthy subjects (AA), 11 patients with sickle cell-hemoglobin C disease (SC) and 16 patients with sickle cell anemia (SS). Two methods were used to assess RBC deformability: 1) indirect viscosimetric method and 2) ektacytometry. The indirect viscosimetric method was based on the Dintenfass equation where blood viscosity, plasma viscosity and hematocrit are measured and used to calculate an index of RBC rigidity (Tk index). The RBC deformability/rigidity of the three groups was compared using the two methods. Tk index was not different between SS and SC patients and the two groups had higher values than AA group. When ektacytometry was used, RBC deformability was lower in SS and SC groups compared to the AA group and SS and SC patients were different. Although the two measures of RBC deformability were correlated, the association was not very high. Bland and Altman analysis demonstrated a 3.25 bias suggesting a slight difference between the two methods. In addition, the limit of agreement represented 28% (>15%) of the mean values of RBC deformability, showing no interchangeability between the two methods. In conclusion, measuring RBC deformability by indirect viscosimetry is less accurate than by ektacytometry, which is considered the gold standard.

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Section: Discussionsupporting

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Indirect viscosimetric method is less accurate than ektacytometry for the measurement of red blood cell deformability

Vent-Schmidt

Waltz

Pichon

et al. 2015

Clinical Hemorheology and Microcirculation

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“…The diabetic pattern appears produced by a combination of reduced erythrocyte deformability and increased erythrocyte aggregation due to plasma protein changes [35]. There are lines of evidence that the red blood cells in other diseases too increase thixotropic properties of blood [36]. …”

Section: Discussionmentioning

confidence: 99%

Effects ofMomordica charantiaL. on the Blood Rheological Properties in Diabetic Patients

França

Ribeiro

Scherer

et al. 2014

BioMed Research International

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An evaluation of the rheological properties and the effects of Momordica. charantia L. (M. charantia) nanoparticles and polyethylene glycol (PEG) microspheres adsorbed with M. charantia nanoparticles on the blood of hyperglycemic patients is presented. Blood samples were collected according to glycemic status: normoglycemic (N = 56) and hyperglycemic (N = 26). General and hematological characteristics were determined. Blood rheological parameters were determined at room temperature and under a temperature scan. We determined the effects on whole blood viscosity of treatment with an extract of M. charantia, PEG, or PEG microspheres adsorbed with plant extract. The viscosity of the blood of hyperglycemic patients is greater than that of normoglycemic patients. Nanoparticles of M. charantia extracts lowered blood viscosity at equivalent rates in normo- and hyperglycemic individuals. PEG microspheres did not reduce blood viscosity in hyperglycemic individuals. However, PEG microspheres adsorbed with nanofraction extracts of M. charantia reduced blood viscosity. These data suggest that the effects of diabetes on the viscosity of the blood should be considered. The use of a nanoparticles extract of M. charantia and its adsorption on PEG microspheres may represent an alternative for the control and treatment of blood disorders in diabetic patients.

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“…9,10 We previously detected GCerase activity in normal erythroblasts but not in circulating RBCs. 11 High lipid levels have been frequently reported in the plasma and RBCs of GD patients, [22][23][24][25] which raises the possibility that the RBCs are overloaded with lipids due to the passive incorporation of GlcCer and/or that the erythroid progenitors are primarily affected. To evaluate the alterations in the erythroid progenitors, we performed in vitro experiments to study the erythroid differentiation from peripheral blood samples from GD type 1 patients.…”

Section: Introductionmentioning

confidence: 99%

“…[5][6][7][8][9][10] We have previously shown that the red blood cells (RBCs) of GD patients exhibit abnormal morphological, rheological and functional properties, and could be considered additional factors in the GD pathophysiology on the basis that they can trigger ischemic events. 11 Importantly, a study of a large cohort revealed that anemia was the only risk factor for avascular osteonecrosis, the most debilitating skeletal complication for GD type 1 patients. 12 Anemia affects 36% of GD patients.…”

Section: Introductionmentioning

confidence: 99%

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease

et al. 2016

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International audienceGaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells. Visceral enlargement, bone involvement, mild anemia and thrombocytopenia are the major manifestations of Gaucher disease. We have previously demonstrated that the red blood cells from patients exhibit abnormal properties, which indicates a new role in Gaucher disease pathophysiology. To investigate whether erythroid progenitors are affected, we examined the in vitro erythropoiesis from the peripheral CD34+ cells of patients and controls. CD34− cells were differentiated into macrophages and co-cultivated with erythroblasts. We showed an accelerated differentiation of erythroid progenitors without maturation arrest from patients compared to controls. This abnormal differentiation persisted in the patients when the same experiments were performed without macrophages, which strongly suggested that dyserythropoiesis in Gaucher disease is secondary to an inherent defect in the erythroid progenitors. The accelerated differentiation was associated with reduced cell proliferation. As a result, less mature erythroid cells were generated in vitro in the Gaucher disease cultures compared to the control. We then compared the biological characteristics of untreated patients according to their anemic status. Compared to the non-anemic group, the anemic patients exhibit higher plasma levels of growth differentiation factor-15, a marker of ineffective erythropoiesis, but they had no indicators of hemolysis and similar reticulocyte counts. Taken together, these results demonstrated an unsuspected dyserythropoiesis that was independent of the macrophages and could participate, at least in part, to the basis of anemia in Gaucher disease

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Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease

Abstract: Key Points• We provide evidence that red blood cells from patients suffering from Gaucher diseases exhibit morphologic and functional abnormalities.

Cited by 39 publications

References 45 publications

Indirect viscosimetric method is less accurate than ektacytometry for the measurement of red blood cell deformability

Indirect viscosimetric method is less accurate than ektacytometry for the measurement of red blood cell deformability

Effects ofMomordica charantiaL. on the Blood Rheological Properties in Diabetic Patients

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease

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