Skip to Main content Skip to Navigation
New interface
Journal articles

Primary red cell hydration disorders: Pathogenesis and diagnosis

Abstract : Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion channels are the key components of volume homeostasis, whereas water passively fits ionic movements. Whenever cation content increases, erythrocyte swells, whereas it shrinks when cation content decreases. Thus, inappropriate cation leak causes erythrocyte hydration disorders, hemolytic anemia, and characteristic red cell shape abnormalities named stomatocytosis. All types of stomatocytosis either overhydrated or dehydrated are linked to inherited or de novo mutations in genes encoding ion transporters or channels. Although intracellular ion content can be assessed by experimental methods, laboratory diagnosis is guided by a combination of red blood cell parameters and deformability measurement when possible, and confirmed by sequencing of the putative genes. A better knowledge of the mechanisms underlying erythrocyte hydration imbalance will further lead to therapeutic improvements.
Document type :
Journal articles
Complete list of metadata
Contributor : Valérie Gall Connect in order to contact the contributor
Submitted on : Wednesday, January 30, 2019 - 3:11:34 PM
Last modification on : Thursday, August 4, 2022 - 4:54:06 PM

Links full text




A. Caulier, R. Rapetti-Mauss, H. Guizouarn, V. Picard, L. Garcon, et al.. Primary red cell hydration disorders: Pathogenesis and diagnosis. International Journal of Laboratory Hematology, 2018, 40 (1, SI), pp.68-73. ⟨10.1111/ijlh.12820⟩. ⟨hal-02000325⟩



Record views