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.

Poikilocytosis

The presence of abnormally shaped erythrocytes.


Total: 2

                       


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PMID (PMCID)
8364215
 MIXED_SAMPLE Child
Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).
Dalla Venezia N, Alloisio N, Forissier A, Denoroy L, Aymerich M, Vives-Corrons JL, Besalduch J, Besson I, Delaunay J.
Blood. 1993;82(5):1661-5.
As is often the case in hereditary elliptocytosis or poikilocytosis related to alpha-spectrin variants, the change involved a helix 3; namely, helix 3 of repeating segment alpha 5.
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.