A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.

@article{Iolascon2009ANE,
  title={A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.},
  author={Achille Iolascon and Luigia de Falco and Franck Borg{\`e}se and Maria Rosaria Esposito and Rosa Anna Avvisati and Pietro Izzo and Carmelo Piscopo and H{\'e}l{\`e}ne Guizouarn and Andrea Biondani and Antonella Pantaleo and Lucia De Franceschi},
  journal={Haematologica},
  year={2009},
  volume={94 8},
  pages={1049-59}
}
BACKGROUND Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudohyperkalemia. DESIGN AND METHODS We report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CEINGE) associated with a dyserythropoietic phenotype. Band 3 genomic analysis, measurement at of hematologic parameters and red cell… CONTINUE READING