title: Spectrin changes occur in erythrocytes from patients with Fanconi's anemia and their parents.
abstract: 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.
authors.affiliation: Department of Ultrastructures, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Straface
authors.forename: R
authors.initials: R
authors.lastname: Masella
authors.forename: D
authors.initials: D
authors.lastname: Del Principe
authors.forename: C
authors.initials: C
authors.lastname: Franceschi
authors.forename: L G
authors.initials: LG
authors.lastname: Korkina
authors.forename: A
authors.initials: A
authors.lastname: Zatterale
authors.forename: G
authors.initials: G
authors.lastname: Pagano
authors.forename: W
authors.initials: W
authors.lastname: Malorni
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000378:metabolism*; D005199:Fanconi Anemia / Q000097:blood* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D010641:Phenotype; D013049:Spectrin / Q000378:metabolism*
chemical_list: D013049:Spectrin