Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency

Abstract

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 were diminished. The kinetic properties, electrophoretic mobility, and thermal stability of the residual red cell hexokinase were normal or nearly so. Glucose consumption of the hexokinase-deficient cells was not appreciably decreased, probably because less of the potent inhibitor glucose-6- phosphate was present in the erythrocytes. It is likely, although not certain, that in this patient nonspherocytic hemolytic anemia resulted from hexokinase deficiency.

Inherited erythrocyte Syruvate kinase eficiency in the West Highland white terrier

“…The partial response to corticosteroids may have been due to suppression of phagocytosis in the spleen, the major site for removal of damaged erythrocytes, although corticosteroids did not affect the PCV of an affected basenji when administered at a dose of 5 mg daily for 14 days (Tasker and others 1969). In human patients with erythrocyte PK deficiency anaemia the response to splenectomy is variable and often only partial (Beutler 1983). Splenectomy has resulted in only transient marginal improvement in the anaemia when performed in affected basenjis others 1969, Giger andNoble 1989).…”

“…Inheritance of erythrocyte PK deficiency in the WHWT occurs as an autosomal recessive trait, as in the basenji Teng 1975, Andreson 1977a) and in man (Beutler 1983). Family studies in the WHWT breed indicate that heterozygotes have half-normal erythrocyte PK activity, do not express the M,-type PK isoenzyme, and do not develop clinical signs.…”

Molecular characterization of the PK‐LR gene in pyruvate kinase deficient Spanish patients

“…Pyruvate kinase (PK) deficiency (PKD) in the most frequent red blood cell (RBC) enzymopathy of the glycolytic pathway leading to hereditary nonspherocytic haemolytic anaemia (CNSHA) ( Fujii & Miwa, 1990; Valentine et al , 1989 ). This RBC defect is inherited as an autosomal recessive trait ( Beutler, 1990; Valentine et al , 1961 ). Two different PK genes are present in mammals; PK‐LR, coding for the liver (L) and RBC (R) isoenzymes, and PK‐M, coding for the M1 and M2 isoenzymes ( Miwa et al , 1993 ).…”