title: Pathophysiological insights in sickle cell disease.
abstract: The first coherent pathophysiological scheme for sickle cell disease (SCD) emerged in the sixties-seventies based on an extremely detailed description of the molecular mechanism by which HbS in its deoxy-form polymerises and forms long fibres within the red blood cell that deform it and make it fragile. This scheme explains the haemolytic anaemia, and the mechanistic aspects of the vaso-occlusive crises (VOCs), but, even though it constitutes the basic mechanism of the disease, it does not account for the processes that actually trigger VOCs. This paper reviews recent data which imply: red blood cell dehydration, its abnormal adhesion properties to the endothelium, the participation of inflammatory phenomenon and of a global activation of all the cells present in the vessel, and finally, abnormalities of the vascular tone and of nitric oxide metabolism. These data altogether have shed a new light on the pathophysiology of the first molecular disease i.e. sickle cell disease.
authors.affiliation: Inserm, UMR 763, Hôpital Robert Debré, Université Paris Diderot, Faculté de Médecine, Paris, France.
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Odièvre
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Verger
authors.forename: Ana Cristina
authors.initials: AC
authors.lastname: Silva-Pinto
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood* / Q000378:metabolism*; D002448:Cell Adhesion; D004730:Endothelium, Vascular / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism* / Q000473:pathology*; D006451:Hemoglobin, Sickle / Q000235:genetics / Q000378:metabolism*; D006461:Hemolysis; D006801:Humans; D007473:Ion Channels / Q000378:metabolism; D009569:Nitric Oxide / Q000378:metabolism
chemical_list: D006451:Hemoglobin, Sickle; D007473:Ion Channels; D009569:Nitric Oxide
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