Hereditary elliptocytosis

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


Total: 2

                       


(per page)
PMID (PMCID)
3818955
 MIXED_SAMPLE Infant, Newborn
Modulation of erythrocyte membrane mechanical stability by 2,3-diphosphoglycerate in the neonatal poikilocytosis/elliptocytosis syndrome.
Mentzer WC Jr, Iarocci TA, Mohandas N, Lane PA, Smith B, Lazerson J, Hays T.
J Clin Invest. 1987;79(3):943-9.
To explain the transient anemia and poikilocytosis seen during infancy in hereditary elliptocytosis (HE), we resealed erythrocyte (RBC) ghosts from affected children or their elliptocytic parents with 2, 3-diphosphoglycerate (DPG) (0-8 mM), a compound that dissociates membrane skeletons, then measured ghost mechanical stability in the ektacytometer.
414505
 FEMALE Child
Auto-immune haemolytic anemia complicating infectious mononucleosis in a patient with hereditary elliptocytosis.
Ho-Yen DO.
Acta Haematol. 1978;59(1):45-52.
Auto-immune haemolytic anemia complicating infectious mononucleosis in a patient with hereditary elliptocytosis.