Straface E, Masella R, Del Principe D, Franceschi C, Korkina L G, Zatterale A, Pagano G, Malorni W
Department of Ultrastructures, Istituto Superiore di Sanità, Rome, Italy.
Biochem Biophys Res Commun. 2000 Jul 14;273(3):899-901. doi: 10.1006/bbrc.2000.3094.
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.
范可尼贫血（FA）是一种临床和遗传异质性疾病，据推测其在活性氧解毒方面存在缺陷。在这项工作中，我们报告了对FA患者及其父母的红细胞（RBC）进行形态计量分析所获得的结果。我们发现，纯合子和杂合子受试者的红细胞中有很大比例发生了显著改变。事实上，红细胞经历了依赖细胞骨架的修饰，特别是血影蛋白分子的修饰，导致细胞萎缩和出泡。我们推测这些变化可能是氧化失衡的结果，氧化失衡可能导致红细胞可塑性和变形相关功能的改变。此外，我们的结果还表明，有可能通过红细胞异常的存在来识别FA携带者。
