Background : Patients with hereditary spherocytosis (HS) are characterized by increased red blood cell (RBC) fragility and a loss of RBC deformability. While the clinical variability of the disease may be heterogenous from one patient to another, some studies reported the occurrence of vascular complications, notably in patients who have been splenectomized. Purpose : The aim of the study is to test the associations between the degree of vascular dysfunction and the extent of hemolysis, the amount of circulating microparticles, the level of erythrosis and the degree of RBC biophysical alterations. Abstract : Recent studies reported the occurrence of vascular complications in patients with HS, notably in patients who have previously been splenectomized. However, the exact reasons of these complications are unknown and no study investigated the vascular function in HS patients. Main objective Highlight the presence of altered vascular function in HS patients and test the relationships with the level of hemolysis and circulating microparticles. Secondary objectives To evaluate the associations between clinical severity and 1) the level of vascular dysfunction and 2) several biomarkers (hemolysis, hematological parameters, circulating microparticles, erythrosis, RBC biophysical properties).
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
72
6 tubes of 4 milliliters (ml) maximum (total: 24 ml) will be sampled for the measurements of the different biological markers. In case of the genetic mutation is already known, only 5 tubes will be collected (total: 20 ml).
Non-invasive measurement of pulse wave velocity between the carotid and femoral arteries with piezo-electric sensors.
Institut d'Hématologie et Oncologie PEdiatrique (iHOPe)
Lyon, France
Hôpital Edouard Herriot
Lyon, France
measurement of pulse wave velocity (PWV)
Vascular function (arterial stiffness) will be investigated by the measurement of pulse wave velocity (PWV). Vascular dysfunction will be defined by a PWV value higher than 6 meter/second (m/s) and 10 m/s in children and adults with HS, respectively.
Time frame: Day 1
Hemogram
The hemogram is a complete blood count of the different cell types. All these measures are performed simultaneously on a standard hematology analyzer.
Time frame: Day 1
Markers of hemolysis
These markers are measured simultaneously on a standard biochemistry analyzer
Time frame: Day 1
Circulating microparticles
Circulating microparticles of various cell origin will be measured by flow cytometry
Time frame: Day 1
Markers of erythrosis
Markers of erythrosis (i.e., suicidal death of red blood cells) will be measured by flow cytometry
Time frame: Day 1
Blood viscosity
Blood viscosity (expressed in Pa.s) will be measured on a cone-plate viscosimeter, ektacytometry and light transmission, respectively.
Time frame: Day 1
Red blood cell deformability
Red blood cell deformability will be measured simultaneously on a Lorrca ektacytometry (Laser-assisted Rotational Red Cell Analyser).
Time frame: Day 1
Red blood cell aggregation
Red blood cell aggregation will be measured simultaneously on a Lorrca ektacytometry (Laser-assisted Rotational Red Cell Analyser).
Time frame: Day 1
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