The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.

@article{Bruce2009TheMC,
  title={The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein.},
  author={Lesley J Bruce and H{\'e}l{\`e}ne Guizouarn and Nicholas M. Burton and Nicole Gabillat and Joyce Poole and Joanna F Flatt and R. Leo Brady and Franck Borgese and Jean Delaunay and Gordon W. Stewart},
  journal={Blood},
  year={2009},
  volume={113 6},
  pages={1350-7}
}
Overhydrated hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a profuse membrane leak to monovalent cations. Here, we show that OHSt red cell membranes contain slightly reduced amounts of Rh-associated glycoprotein (RhAG), a putative gas channel protein. DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser… CONTINUE READING
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Duclosnegative and Ol(a ) blood group phenotypes are associated with amino acid substitutions in the external loops of the Rh-associated glycoprotein [abstract

  • L Tilley, A Gaskell, J Poole, G. Daniels
  • Vox Sang
  • 2008

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