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

Hereditary Nonspherocytic Hemolysis With Erythrocyte Phosphofructokinase Deficiency

  1. Larry Waterbury, M.D., Assistant Chief Physician in Blood Bank and
  2. Eugene P. Frenkel, M.D., Professor of Internal Medicine
  1. Department of Internal Medicine, The University of Texas Southwestern Medical School at Dallas, and the Veterans Administration Hospital, Dallas, Texas.
  2. Department of Medicine, Baltimore City Hospital, Baltimore, Md.; recipient of USPHS Grant 5 P03 CA 39820.
  3. University of Texas Southwestern Medical School at Dallas, Dallas, Texas.

Abstract

Hereditary nonspherocytic hemolysis associated with abnormal erythrocyte phosphofructokinase activity was demonstrated in a young man. Enzyme activity in the propositus, his mother, and maternal grandmother was approximately 60% of normal controls. There was markedly increased lability of enzyme activity on in vitro storage. Kinetic studies revealed increased sensitivity to adenosine triphosphate inhibition. Erythrocyte adenosine triphosphate levels were depressed. The absence of muscle disease and the presence of normal in vivo lactate production following ischemic exercise differentiated this kindred from those with Type VII glycogen storage disease.

  • Submitted July 16, 1971.
  • Revision received August 24, 1971.
  • Accepted August 31, 1971.