Sickle cell disease: Selected aspects of pathophysiology

T. Alexy, S. Sangkatumvong, P. Connes, E. Pais, J. Tripette, J. C. Barthelemy, T. C. Fisher, H. J. Meiselman, M. C. Khoo, T. D. Coates

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)155-166
Number of pages12
JournalClinical hemorheology and microcirculation
Volume44
Issue number3
DOIs
StatePublished - 2010

Keywords

  • Sickle cell disease
  • autonomic nervous function
  • transfusion therapy

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