Drepanocytose disease is the first genetic disease in the world. It results in the synthesis
of an abnormal hemoglobin (HbS), which in its deoxygenated form, polymerizes and leads to
structural changes of red blood cells (RBC) which then take the shape of a sickle, become
more fragile, more rigid and less deformable. The fragility of GR sickle causes their mass
destruction, leading to chronic anemia (i.e. low levels of GR in the blood) associated with
low tissue oxygenation. More rigid and less deformable, sickle GR tend to hang in the
microvessels, leading to vaso-occlusive crises (CVO) particularly painful, can cause the
failure of certain organs (spleen, kidneys, brain, lung, heart, liver , bone ...) and to
life-threatening patients. Preliminary studies conducted on patients with drepanocytose
disease (HbSS) have demonstrated changes of muscle tissue indicating a possible failure in
the supply and use of oxygen. To date, the translation of this metabolic remodeling in the
muscle work is not known.
This project's main objective is to evaluate muscle function in drepanocytose attempted
patients. We hypothesized that muscle remodeling associated with sickle cell disease have a
functional impact on strength and muscle metabolism. The main objective is to characterize
the maximal voluntary plantar flexor muscles. The criteria for these targets will be based on
the comparison between healthy subjects, carriers of the sickle cell trait (HbAS) and sickle
cell patients (HbSS) oxygen saturation.
The strictly non-invasive approach proposed in this project will study the functional
parameters of the muscle of sickle cell disease and the possible link with the clinical
manifestations of the disease, including vaso-occlusive crisis, in which tissue oxygenation
and pH plays a major role.