Blood Journal
Leading the way in experimental and clinical research in hematology

A New Variant of Hereditary Hemolytic Anemia With Stomatocytosis and Erythrocyte Cation Abnormality

  1. DENIS R. MILLER, M.D., Associate Professor of Pediatrics and Director of Pediatric Hematology,
  2. FREDERICK R. RICKLES, M.D., Trainee in Hematology,
  3. MARSHALL A. LICHTMAN, M.D., Associate Professor of Medicine, and of Radiation Biology and Biophysics,
  4. PAUL L. LA CELLE, M.D., Associate Professor of Medicine and of Radiation Biology and Biophysics,
  5. JONATHAN BATES, M.D., formerly fourth year student, and
  6. ROBERT I. WEED, M.D., Professor of Medicine and of Radiation Biology and Biophysics
  1. Department of Pediatrics, Cornell University Medical College; and the Department of Pediatrics, Medicine and Radiation Biology and Biophysics, the University of Rochester School of Medicine and Dentistry.
  2. Cornell University Medical College, New York, N.Y.; formerly Assistant Professor of Pediatrics, University of Rochester School of Medicine, Rochester, N.Y.
  3. Department of Medicine, University of Rochester School of Medicine, Rochester, N.Y.
  4. University of Rochester School of Medicine, Rochester, N.Y.; Leukemia Society Scholar.
  5. University of Rochester School of Medicine, Rochester, N.Y.
  6. University of Missouri School of Medicine, Columbia

Abstract

A new variant of congenital hemolytic anemia associated with stomatocytosis, reticulocytosis, decreased osmotic fragility, type I autohemolysis and shortened erythrocyte survival without specific splenic sequestration was discovered in three siblings of Swiss-German ancestry. Increased intracellular sodium (two to three times normal) and slightly decreased intracellular potassium were detected. Total sodium efflux was eight-fold greater than normal but total potassium influx was normal and ouabain-sensitive potassium influx was decreased. The ouabain-sensitive sodium efflux: potassium influx ratio was 26:1 rather than the 3:2 ratio noted in normal cells. The consanguineous parents, four other siblings, and 44 other family members had mild stomatocytosis, reticulocytosis, and, when studied, decreased osmotic fragility, increased autohemolysis, intermediate abnormalities of cation content, cation flux, and moderate shortening of erythrocyte survival. Autosomal dominant inheritance was suggested. No abnormalities of RBC enzymes, hemoglobin or lipids were observed. No abnormalities of membrane protein were detected on acrylamide gel. Substrate depletion of these hypermetabolic cells resulted in intracellular dehydration with potassium loss in excess of sodium gain and decreased deformability. Although the exact nature of the defect responsible for hemolysis is unknown, this syndrome differs from other hereditary hemolytic anemias associated with stomatocytosis.

  • Submitted December 21, 1970.
  • Revision received March 16, 1971.
  • Accepted March 29, 1971.