Affiliations: Department of Physiology and Biophysics, Keck School of Medicine, Los Angeles, CA, USA | Department of Biomedical Engineering, University of Southern California, Los Angeles, CA, USA | Childrens Hospital Los Angeles, Los Angeles, CA, USA | EA 3596, Laboratoire ACTES, Département de Physiologie, Université des Antilles et de la Guyane, Campus de Fouillole, Guadeloupe | UMR S 763 Inserm/Université des Antilles et de la Guyane, CHU Pointe-à-Pitre, Guadeloupe | Laboratoire de Physiologie Clinique et de l’Exercice, groupe PPEH, Saint-Etienne, France
Note: [] Corresponding author: Tamas Alexy, MD, PhD, University of Southern California, Keck School of Medicine, 1333 San Pablo Street, MMR626, Los Angeles, CA 90033, USA. Tel.: +323 442 1267; Fax: +323 442 1617; E-mail:: alexy@usc.edu
Abstract: Sickle cell disease (SCD), a genetically-determined pathology due to an amino acid substitution (i.e., valine for glutamic acid) on the beta-chain of hemoglobin, is characterized by abnormal blood rheology and periods of painful vascular occlusive crises. Sickle cell trait (SCT) is a typically benign variant in which only one beta chain is affected by the mutation. Although both SCD and SCT have been the subject of numerous studies, information related to neurological function and transfusion therapy is still incomplete: an overview of these areas is presented. An initial section provides pertinent background information on the pathology and clinical significance of these diseases. The roles of three factors in the clinical manifestations of the diseases are then discussed: hypoxia, autonomic nervous system regulation and blood rheology. The possibility of a causal relationship between these three factors and sudden death is also examined. It is concluded that further studies in these specific areas are warranted. It is anticipated that the outcome of such research is likely to provide valuable insights into the pathophysiology of SCD and SCT and will lead to improved clinical management and enhanced quality of life.
