Hereditary Nonspherocytic Hemolytic Disease

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 ...

Nonspherocytic congenital hemolytic anemia.

Hereditary nonspherocytic hemolytic disease associated with an altered phospholipid composition of the erythrocytes.

A hemolytic disorder with mild hyperbilirubinemia and reticulocytosis of 6 to 15% was documented in eight members of a large family from the Dominican Republic and was presumed to be present in eight other members. The disorder appeared to be inherited as an autosomal dominant characteristic. Analysis of phospholipids by quantitative thinlayer chromatography revealed a distinct increase in phos...

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

DNA analysis was performed on 30 unrelated patients with hereditary nonspherocytic hemolytic anemia (HNSHA) who had been found to be pyruvate kinase (PK) deficient by enzyme assay. 19 different mutations were identified among 58 of the 60 alleles at risk. 13 of these were missense mutations that caused single amino acid changes. Included were the following nucleotide substitutions: 401A, 464C, ...

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...