Spectrin changes occur in erythrocytes from patients with Fanconi's anemia and their parents

Elisabetta Straface, Roberta Masella, Domenico Del Principe, Claudio Franceschi, Ludmilla G. Korkina, Adriana Zatterale, Giovanni Pagano, Walter Malorni

Research output: Contribution to journalArticle


Fanconi's anemia (FA) is a clinically and genetically heterogeneous disease which has been hypothesized to be defective in the detoxification of reactive oxygen species. In this work we report the results obtained by morphometric analyses on the red blood cells (RBCs) from FA patients and their parents. We found that a high rate of erythrocytes from both homozygous and heterozygous subjects was significantly altered. RBCs underwent in fact cytoskeleton-dependent modifications, in particular of spectrin molecule, leading to cell shrinking and blebbing. We hypothesize that these changes may be the result of an oxidative imbalance that probably lead to alterations of RBC plasticity- and deformation-associated functions. Moreover, our results also suggest the possibility to identify FA carriers by the existence of RBC abnormalities. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)899-901
Number of pages3
JournalBiochemical and Biophysical Research Communications
Issue number3
Publication statusPublished - Jul 14 2000

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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