Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

Abstract:

:Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this disorder and showed recurrent metabolic abnormalities associated with this disease but not due to the diminished half-life of their erythrocytes. Glycolysis is exhausted with accumulation of ADP, pyruvate, lactate, and malate. Ascorbate metabolic pathway is altered probably due to a limited entry of dehydroascorbate. Although no major oxydative stress has been reported in patients with overhydrated hereditary stomatocytosis, we found decreased amounts of oxydized glutathione, creatine and ergothioneine, suggesting transporter abnormalities and/or uncharacterized oxydative stress. These results pinpoint major metabolic defects of overhydrated hereditary stomatocytosis erythrocytes and emphasize the relevance of red blood cell metabolomics for a better understanding of the pathophysiological bases of hemolytic anemia associated with erythrocyte abnormalities.

journal_name

Haematologica

journal_title

Haematologica

authors

Darghouth D,Koehl B,Heilier JF,Madalinski G,Bovee P,Bosman G,Delaunay J,Junot C,Roméo PH

doi

10.3324/haematol.2011.045179

subject

Has Abstract

pub_date

2011-12-01 00:00:00

pages

1861-5

issue

12

eissn

0390-6078

issn

1592-8721

pii

haematol.2011.045179

journal_volume

96

pub_type

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