Red cell membrane and erythropoiesis genetic defects.

Abstract

In recent years, the frontline of red cell membrane research has shifted. Seeking new mutations in known genes has been taken over by the quest of new genes. It remains that many natural mutations, both in human and mice, have an irreplaceable heuristic value. For example, it is some of these mutations that eventually paved the way to the demonstration that the band 3 and the Rh complexes form a macrocomplex fulfilling, as one may assume, the function of a gas transport metabolon. Mapping and individualization of novel genes have been successful in inherited disorders of the membrane permeability to monovalent cations, such as dehydrated hereditary stomatocytosis and pseudohyperkalemia, and congenital dyserythropoietic anemias (CDAs). We herein included CDAs because the red cell membrane is abnormal in at least CDA I and II. A major breakthrough was the identification of the gene, the mutations of which cause CDA I. It encodes codanin-1. The occurrence of lipid rafts in the red cell starts being documented. GPI-anchored proteins and a number of minor proteins associated with the rafts allow foreseeing a chapter of great novelty in red cell membrane physiology.