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Updated: Apr 12, 2026

Measuring Deformability and Red Cell Heterogeneity in Blood by Ektacytometry
Published on: January 12, 2018
Disorders of erythrocyte volume homeostasis
1Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Abstract:
Inherited disorders of erythrocyte volume homeostasis are a heterogeneous group of rare disorders with phenotypes ranging from dehydrated to overhydrated erythrocytes. Clinical, laboratory, physiologic, and genetic heterogeneities characterize this group of disorders. A series of recent reports have provided novel insights into our understanding of the genetic bases underlying some of these disorders of red cell volume regulation. This report reviews this progress in understanding determinants that influence erythrocyte hydration and how they have yielded a better understanding of the pathways that influence cellular water and solute homeostasis.
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