Format

Send to

Choose Destination
See comment in PubMed Commons below
Int J Lab Hematol. 2015 May;37 Suppl 1:85-91. doi: 10.1111/ijlh.12357.

Disorders of erythrocyte volume homeostasis.

Author information

1
Departments 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.

KEYWORDS:

Band 3; Erythrocyte; GLUT1; PIEZO1; RhAG; stomatocytosis; volume homeostasis; xerocytosis

PMID:
25976965
PMCID:
PMC4435826
DOI:
10.1111/ijlh.12357
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley Icon for PubMed Central
    Loading ...
    Support Center