1978
DOI: 10.1182/blood.v51.5.935.bloodjournal515935
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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 hexo… Show more

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“…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).…”
Section: Discussionmentioning
confidence: 99%
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“…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).…”
Section: Discussionmentioning
confidence: 99%
“…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.…”
Section: Discussionmentioning
confidence: 99%
“…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 ).…”
mentioning
confidence: 99%