Cytoskeleton alterations of erythrocytes from patients with Fanconi's anemia

Fanconi's anemia (FA) is a very rare genetically heterogeneous disease whic h has been hypothesized to be defective in the detoxification of reactive o xygen species. In this work we report the results obtained by morphometric and biochemical analyses on the red blood cells (RBCs) from FA patients, Wi th respect to RBCs from healthy donors the following changes have been dete cted: (i) a variety of ultrastructural alterations, mainly surface blebbing typical of acanthocytes and stomatocytes (ii) a significant quantitative i ncrease of these altered forms; (iii) modifications of spectrin cytoskeleto n network; (iv) an altered redox balance, e.g. a decreased catalase activit y and significant variations in the GSSG/GSH ratio, We hypothesize that rem odeling of the redox state occurring in FA patients results in cytoskeleton -associated alterations of red blood cell integrity and function. (C) 2000 Federation of European Biochemical Societies.