Journal
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
Volume 37, Issue -, Pages 85-91Publisher
WILEY-BLACKWELL
DOI: 10.1111/ijlh.12357
Keywords
Erythrocyte; volume homeostasis; stomatocytosis; xerocytosis; PIEZO1; RhAG; Band 3; GLUT1
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Funding
- Doris Duke Foundation
- NIH [DK104046]
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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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