Congenital Hemolytic Anemia with High Sodium, Low Potassium Red Cells

An 11-year-old boy was first known to have a hemolytic episode at the age of 8 years, and a diagnosis of nonspherocytic congenital hemolytic anemia due to G-6-PD deficiency was made soon after the hemolytic episode. The red cells of the patient contained a level of G-6-PD activity approximating 10 to 25% of normal. The residual enzyme was partly purified and characterized. It proved to be electrophoretically slow, and was kinetically essentially normal. The thermal stability of the enzyme was reduced and its stability in vivo was markedly diminished. This enzyme represents a new variant which has been named G-6-PD Alhambra.

Download Full-text

Red cell calcium leak in congenital hemolytic anemia with extreme microcytosis

Blood ◽

10.1182/blood.v47.2.197.197 ◽

1976 ◽

Vol 47 (2) ◽

pp. 197-210 ◽

Cited By ~ 20

Author(s):

JS Wiley ◽

FM Gill

Keyword(s):

Hemolytic Anemia ◽

Cell Morphology ◽

Osmotic Fragility ◽

Red Cells ◽

Red Cell ◽

Fresh Blood ◽

Ouabain Binding ◽

Red Cell Membrane ◽

Membrane Area ◽

Congenital Hemolytic Anemia

Abstract A child with congenital hemolytic anemia, extreme microcytosis and bizarre red cell morphology has been studied. Splenectomy at the age of 21 mo greatly improved the hemolytic anemia, although red cell morphology was unchanged. Aniso- and poikilocytosis were marked on a stained smear, and there were many small hyperchromatic cells of irregular shape. The MCV of 25 cu mu was very low and the MCHC was normal. Osmotic fragility of fresh blood was increased, and postsplenectomy blood showed a fraction of extremely fragile cells. Concentration and fluxes of Na+ and K+ were normal, except K+ efflux, which was stimulated by external Ca2+. Inward Ca2+ movement into the patient's red cells was elevated three- to fourfold above red cells of the same mean age. Red cell Ca2+ concentration was raised 2.5 times normal and most of the Ca2+ was localized in the stroma. Red cell lipid, sialic acid, and ouabain-binding sites, all per milliliter of cells, were increased by 16%-23%, and, since these substances estimate the amount of membrane, it was likely that Ca2+ content per unit of membrane area was at least twice normal. Deformability of the cells, as judged by their filterability was markedly impaired. It was concluded that the red cell membrane was defective, and an increased membrane Ca2+ content was associated with reduced deformability, hemolysis, and distorted red cell morphology in this syndrome.

Download Full-text

ELECTROLYTES IN TISSUES, RED CELLS, AND PLASMA OF THE POLAR BEAR AND CARIBOU

Canadian Journal of Zoology ◽

10.1139/z66-021 ◽

1966 ◽

Vol 44 (2) ◽

pp. 235-240 ◽

Cited By ~ 2

Author(s):

J. F. Manery ◽

J. S. Barlow ◽

J. M. Forbes

Keyword(s):

Skeletal Muscle ◽

Blood Cells ◽

Polar Bear ◽

Potassium Concentration ◽

Red Cells ◽

Sodium Potassium ◽

High Sodium ◽

Low Potassium ◽

Calcium Magnesium ◽

Water Analyses

Sodium, potassium, calcium, magnesium, chloride, and water analyses were carried out on tissues of three polar bears, and on the blood of the barren ground caribou. The electrolyte and water concentrations in heart, liver, skeletal muscle, tendon, and plasma of the polar bear were not essentially different from those found in other mammals. Red blood cells of this branch of the bear family, Ursidae, resembled those of other members of the order, Carnivora, in containing a high sodium, 91.1 meq, and a low potassium concentration, 4.1 meq, per kilogram of packed cells; they also contained 4.9 meq of magnesium per kilogram of packed cells. Caribou red cells had 29.6 meq of sodium per kilogram of packed cells and 1.7 meq of calcium per liter of packed cells, and in this electrolyte pattern resembled other members of the order Artiodactyla, which is distinguished by the variability among the families in the Na–K balance of the erythrocytes. The data reported here are of special interest because of the genetic control of the Na–K balance in red cells.

Download Full-text

Autohemolysis and Other Changes Resulting from the Incubation in Vitro of Red Cells from Patients with Congenital Hemolytic Anemia

Blood ◽

10.1182/blood.v9.5.414.414 ◽

1954 ◽

Vol 9 (5) ◽

pp. 414-438 ◽

Cited By ~ 176

Author(s):

J. G. SELWYN ◽

J. V. DACIE

Keyword(s):

Hemolytic Anemia ◽

Osmotic Fragility ◽

Red Cells ◽

Potassium Loss ◽

Different Types ◽

Normal Glucose ◽

Congenital Hemolytic Anemia

Abstract Observations were made on the changes in volume, osmotic fragility, and cation contents of red cells incubated in serum at 37 C. for 24 and 48 hours. The results show that spontaneous autohemolysis is not due to progressive swelling of the cells, but is probably due to degenerative changes in the cell membranes. On incubation, normal red cells increase in volume during the first 24 hours due to a gain in sodium and water; the cells lose potassium but at a slower rate than they gain sodium. During the second 24 hours of incubation the loss in potassium exceeds the gain in sodium and the cells shrink to near their original volume. These cation changes and the autohemolysis are greatly reduced if glucose is present throughout the 48 hours of incubation. Red cells from several different types of congenital hemolytic anemia were also studied; important deviations from the normal pattern were observed. In hereditary spherocytosis the rates of autohemolysis, of increase in osmotic fragility, and of potassium loss are greater than normal. The continued presence of glucose during incubation markedly retarded these changes. In hereditary elliptocytosis trait the red cells behaved normally on incubation. In one case of elliptocytosis with hemolytic anemia, autohemolysis was normal but there was an increased potassium loss. In another patient with hemolytic anemia and increased osmotic fragility autohemolysis was greatly increased. In all these cases of elliptocytosis, glucose reduced the autohemolysis moderately but not to a normal degree. Four cases of congenital nonspherocytic hemolytic anemia were studied. In two patients (type 1) autohemolysis, osmotic fragility and cation changes on incubation were normal; glucose had a normal effect on the fragility and cation changes, but only slightly reduced the autohemolysis. In the two other patients (type 2) autohemolysis, increase in osmotic fragility, and loss of potassium were markedly increased. Glucose did not retard any of these changes and it was found that the cells were unable to utilize glucose at the normal rate.

Download Full-text

Red cell calcium leak in congenital hemolytic anemia with extreme microcytosis

Blood ◽

10.1182/blood.v47.2.197.bloodjournal472197 ◽

1976 ◽

Vol 47 (2) ◽

pp. 197-210 ◽

Cited By ~ 1

Author(s):

JS Wiley ◽

FM Gill

Keyword(s):

Hemolytic Anemia ◽

Cell Morphology ◽

Osmotic Fragility ◽

Red Cells ◽

Red Cell ◽

Fresh Blood ◽

Ouabain Binding ◽

Red Cell Membrane ◽

Membrane Area ◽

Congenital Hemolytic Anemia

A child with congenital hemolytic anemia, extreme microcytosis and bizarre red cell morphology has been studied. Splenectomy at the age of 21 mo greatly improved the hemolytic anemia, although red cell morphology was unchanged. Aniso- and poikilocytosis were marked on a stained smear, and there were many small hyperchromatic cells of irregular shape. The MCV of 25 cu mu was very low and the MCHC was normal. Osmotic fragility of fresh blood was increased, and postsplenectomy blood showed a fraction of extremely fragile cells. Concentration and fluxes of Na+ and K+ were normal, except K+ efflux, which was stimulated by external Ca2+. Inward Ca2+ movement into the patient's red cells was elevated three- to fourfold above red cells of the same mean age. Red cell Ca2+ concentration was raised 2.5 times normal and most of the Ca2+ was localized in the stroma. Red cell lipid, sialic acid, and ouabain-binding sites, all per milliliter of cells, were increased by 16%-23%, and, since these substances estimate the amount of membrane, it was likely that Ca2+ content per unit of membrane area was at least twice normal. Deformability of the cells, as judged by their filterability was markedly impaired. It was concluded that the red cell membrane was defective, and an increased membrane Ca2+ content was associated with reduced deformability, hemolysis, and distorted red cell morphology in this syndrome.

Download Full-text