title: Advances in understanding the pathogenesis of the red cell volume disorders.
abstract: Genetic defects of erythrocyte transport proteins cause disorders of red blood cell volume that are characterized by abnormal permeability to the cations Na(+) and K(+) and, consequently, by changes in red cell hydration. Clinically, these disorders are associated with chronic haemolytic anaemia of variable severity and significant co-morbidities, such as iron overload. This review provides an overview of recent insights into the molecular basis of this group of rare anaemias involving cation channels and transporters dysfunction. To date, a total of 5 different membrane proteins have been reported to be responsible for volume homeostasis alteration when mutated, 3 of them leading to overhydrated cells (AE1 [also termed SLC4A1], RHAG and GLUT1 [also termed SCL2A1) and 2 others to dehydrated cells (PIEZO1 and the Gardos Channel). These findings are not only of basic scientific interest, but also of direct clinical significance for improving diagnostic procedures and identify potential approaches for novel therapeutic strategies.
authors.affiliation: APHM Department of Medical Genetics, Hôpital de la Timone, Aix Marseille Univ, INSERM, GMGF, Marseille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.affiliation: Univ. Nice Sophia Antipolis, CNRS, Inserm, iBV, 06100 Nice, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Guizouarn
mesh_terms: D000743:Anemia, Hemolytic / Q000209:etiology*; D000818:Animals; D002352:Carrier Proteins / Q000235:genetics; D048429:Cell Size; D004912:Erythrocytes / Q000473:pathology*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins
keywords: Anaemia; Stomatocytosis; red cell membrane; sodium potassium membrane transport