[Advances in sickle cell disease].
Generation of transgenic mice have identified new pathophysiological mechanisms in sickle disease, including a permanent proinflammatory state and dysregulation of vascular tone. Treatment is no longer solely symptomatic. New agents target red cell hydration and the kinetics of deoxyhemoglobin S polymerization. Hydroxyurea, which reactivates fetal hemoglobin synthesis, is now widely used. Anti-adhesion molecules and agents modulating vascular tone are being tried in sickle mice. Bone marrow transplantation is widely used to cure patients with HLA-identical siblings, and gene therapy looks promising for those without a donor.
de Montalembert
Mariane
M
Pédiatrie générale, Hôpital Necker-Enfants Malades, Paris. mariane.demontal@nck.aphp.fr
D000755:Anemia, Sickle Cell / Q000188:drug therapy / Q000235:genetics / Q000601:surgery / Q000628:therapy*; D000818:Animals; D016026:Bone Marrow Transplantation; D004730:Endothelium, Vascular / Q000187:drug effects / Q000503:physiopathology; D004912:Erythrocytes / Q000187:drug effects; D018507:Gene Expression Regulation, Developmental / Q000187:drug effects; D015316:Genetic Therapy; D006451:Hemoglobin, Sickle / Q000187:drug effects; D006801:Humans; D006918:Hydroxyurea / Q000494:pharmacology / Q000627:therapeutic use; D051379:Mice; D008822:Mice, Transgenic; D009569:Nitric Oxide / Q000378:metabolism
D006451:Hemoglobin, Sickle; D009569:Nitric Oxide; D006918:Hydroxyurea