Hereditary Elliptocytosis

Abstract

The of the erythrocyte biochemistry in 15 cases of hereditary elliptocytosis, shown and both before and after incubation with APHand an increase of G6PDH, NAPDH-GR, HK, PFK, ENOL, and LDH activities. A slight decrease in ALD and ATP-ase was also observed. The raised values of many enzymatic activities may be a consequence of hy-perhaemolysis and thus the presence of a young erythrocyte population containing an increased concentration of enzymes. The normal but low values of ATP-ase and the ALD deficiency may be the result of structural alterations of the erythrocyte membrane.

Extraction of erythrocyte membrane proteins by sulfhydryl inhibitors.

“…The camel erythrocytes are not biconcave discs but flattened ellipsoid (Ralston 1975) and resemble the red cells of hereditary elliptocytosis at least in shape. Hereditary elliptocytosis is one of the rare hereditary hemolytic anemias, and primitive defect of erythrocyte membrane and some similarities of membrane abnormality to hereditary spherocytosis have been postulated (Rebuck and Van Slyck 1968;Torlontano et al 1972). Mutation of microfilamentous proteins of red cell membrane has been suggested as a fundamentall defect of HS red cells (Jacob et al 1971).…”