Hereditary Hemolytic Anemia Associated with Glucosephosphate Isomerase (GPI) Deficiency— a New Enzyme Defect of Human Erythrocytes

Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.

I N RECENT YEARS, specffic inborn erythrocyte enzyme deficiencies have l)een implicated in the etiology of certain hereditary hemolytic anemias not characterized by spherocytosis. This report defines still another instance in which hereditary hemolytic anemia has been found to be associated with a deficiency in a specific glycolytic enzyme. The propositus has had a hemolytic syndrome present si...

Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.

We report here two new cases of glucose phosphate isomerase (GPI) deficiency associated with hemolytic anemia and present the results of molecular analysis of the five Japanese GPI variants. A Japanese girl (GPI Fukuoka) had an episode of prolonged neonatal jaundice and at 3 years of age was admitted due to acute hemolytic crisis occurring with upper respiratory tract infection. Red blood cell ...

Erythrocyte membrane proteins in hereditary glucosephosphate isomerase deficiency.

Erythrocytes (approximately equal to 50% reticulocytes) obtained from a splenectomized patient with a thermolabile variant of glucosephosphate isomerase (GPI) deficiency showed a striking degree of crenation and decreased filterability through 3-micrometer Nuclepore filters (Nuclepore Corp., Pleasanton, Calif.). Membranes prepared by hypotonic lysis of such erythrocytes were found to contain a...

Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency.

An 11-yr-old child with mild chronic hemolytic anemia was found to have decreased red cell hexokinase activity in spite of the reduced mean age of her red cell population. Similar decreases in red cell hexokinase activity were documented in the patient's parents and in one sib. The red cells were morphologically normal. Red cell 2,3-DPG levels were normal and ATP and glucose-6-phosphate levels ...

Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis.