Sickle Cell Disease

  • Carlo Brugnara
Chapter

Abstract

Sickle cell disease is a classic example of a genetic disorder of hemoglobin structure and function. The mutation from glu to lys at the β 6 position of the hemoglobin molecule (Hb S) results in the formation of Hb S aggregates (polymerization) under conditions of reduced oxygen tension. Polymerization of Hb S leads to the cellular deformation known as erythrocyte sickling. The clinical manifestations of this disease are unique, because they combine those of a chronic hemolytic anemia with those of an acute and chronic vaso-occlusion. The erythrocyte membrane is an important factor in both the premature demise of the circulating sickle erythrocytes and the plugging of capillaries and small blood vessels, resulting from the interaction of sickle erythrocytes with vascular endothelium. One of the distinguishing features of sickle cell disease is the presence of erythrocyte dehydration. Erythrocyte dehydration plays an important role in cell sickling, since the polymerization tendency of Hb S is greatly enhanced when the cellular Hb S concentration is increased.

Keywords

Permeability Magnesium Urea Tyrosine Mold 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • Carlo Brugnara
    • 1
  1. 1.Department of Laboratory Medicine, Children’s Hospital BostonHarvard Medical SchoolBostonUSA

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