Hereditary Stomatocytosis: Association of Low 2,3-Diphosphoglycerate with Increased Cation Pumping by the Red Cell

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Abstract
The levels of glycolytic intermediates were measured in red cells from patients with overhydrated and dehydrated varieties of the hereditary stomatocytosis syndrome. Red cell 2,3-diphosphoglycerate [2,3-DPG] was reduced by 33% below normal in all patients with stomatocyte or target cell morphologies (i.e., over or under hydrated varieties, respectively). The relative decrement in 2,3-DPG was even greater when abnormal cells were compared with control cells with similar reticulocytosis. Red cell ADP concentrations in stomatocytosis were significantly increased above normal but ATP concentrations were not significantly changed. Whole blood O2 affinity in stomatocytosis was increased in proportion to the lowered content of diphosphoglycerate. Some new parameters of membrane transport in hereditary stomatocytosis were measured. Platelet K+ and Na+ concentrations and platelet K+ permeability were normal in stomatocytosis. The number of 3H-uridine transport sites in stomatocytes were increased by 9-39% above normal and this increment was the same as the increment in red cell lipids (0-38%). Hereditary stomatocytes contain 2- to 10-fold more cation pumps than normal and the increased active cation pumping may explain the high ADP, the low 2,3-DPG concentration and the increased O2 affinity in this syndrome.

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