Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability

Hereditary nonspherocytic hemolytic anemia due to a new hexokinase variant with reduced stability.

A 27-year-old woman with severe chronic hemolytic anemia was found to have reduced red cell hexokinase activity when the degree of reticulocytosis was considered. This enzyme had normal pH-dependent activity, normal Km for glucose, fructose, and mannose, normal Km for Mg adenosine triphosphate (ATP)2- and Ki for glucose-1,6-diphosphate. Furthermore, the pH-dependence and orthophosphate dependen...

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 ...

Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant.

We report a family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in one apparently homozygous family member. The variant enzyme has a normal pH optimum, normal reaction kinetics, and normal electrophoretic properties, but has reduced activity and is apparently inactivated rapidly as the affected erythrocytes age.

Nonspherocytic congenital hemolytic anemia.

G-6-PD Manchester: a new variant associated with chronic nonspherocytic hemolytic anemia.

A variant of glucose-6-phosphate dehydrovariant is the slowest yet described. genase (G-6-PD) designated G-6-PD Substrate specificity is normal but enzyme Manchester, and associated with chronic activity is markedly inhibited by NADPH, nonspherocytic hemolytic anemia. was and this is thought to account for the severe found in an English male. The electrochronic hemolysis. phoretic mobility at p...