Iolascon A, Avvisati R A, Piscopo C
Dipartimento di Biochimica e Biotecnologie Mediche, Università di Napoli Federico II, CEINGE Biotecnologie Avanzate, Via Comunale Margherita 482, 80145 Naples, Italy.
Transfus Clin Biol. 2010 Sep;17(3):138-42. doi: 10.1016/j.tracli.2010.05.006. Epub 2010 Jul 23.
Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen. Hereditary spherocytosis, including the very mild or subclinical forms, is the most common cause of non-immune hemolytic anemia among people of Northern European ancestry, with a prevalence of approximately 1 in 2000. However very mild forms of the disease may be much more common. Hereditary spherocytosis is inherited in a dominant fashion in 75% of cases, whereas the remaining are truly recessive cases and de novo mutations. This review reports current concepts on red cell membrane structure and it will attempt to clarify molecular defects leading to spherocyte and their consequences.
遗传性球形红细胞增多症是一种常见的溶血性疾病，其特征是构成红细胞膜的一种或多种蛋白质存在缺陷或不足。因此，红细胞形状异常，代谢需求更高，并在脾脏中过早地滞留和破坏。遗传性球形红细胞增多症，包括非常轻微或亚临床形式，是北欧血统人群中非免疫性溶血性贫血最常见的原因，患病率约为两千分之一。然而，该疾病的非常轻微形式可能更为常见。在75%的病例中，遗传性球形红细胞增多症以显性方式遗传，其余为真正的隐性病例和新发突变。本综述报告了关于红细胞膜结构的当前概念，并将试图阐明导致球形红细胞的分子缺陷及其后果。
