Adenosine-Triphosphatase Deficiency in Patients With Non-Spherocytic Hemolytic Anæmia

Harvald, B; Hänel, Kai H.; Squires, Richard F.; Trap‐Jensen, J.

doi:10.1016/s0140-6736(64)90009-1

Cited by 60 publications

(14 citation statements)

References 12 publications

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“…The former possibility appeared to be unlikely because of the elevated concentration of ATP consistent with the reticulocytosis, the increased utilization of glucose and production of lactate and pyruvate, the decreased osmotic fragility, the results of the autohemolysis tests, and the mild clinical course (48)(49)(50). ATPase deficiency could not be excluded with certainty, but the degree of anemia in reported cases usually was greater, the reticulocytosis less marked, and the osmotic fragility would be expected to be increased (51). The diagnosis of a hereditary nonspherocytic hemolytic disorder, therefore, was made after eliminating other etiologies.…”

Section: Methodsmentioning

confidence: 99%

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

Jaffé¹,

Gottfried²

1968

J. Clin. Invest.

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A B S T R A C T A hemolytic disorder with mildhyperbilirubinemia and reticulocytosis of 6 to 15%o 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 phosphatidyl choline (lecithin) to 35.5 ± SD 1.3%o of the total (normal: 28.2 + 1.4%c) in erythrocytes of affected members of the family, but not in the cells of unaffected relatives. The alteration appeared to constitute an absolute increase in lecithin content, rather than a decrease in other phospholipids. Erythrocytes from patients with other varieties of hereditary hemolytic disorders and comparable levels of reticulocytosis had normal phospholipid compositions. Plasma lipids of six affected members of the family were not unusual with respect to total lipid weight, total phospholipid, and cholesterol. Three patients with liver disease and jaundice were found to have marked increases in the lecithin content of the erythrocytes. but they also had extremely high plasma levels of total lipid, phospholipids, and cholesterol.Osmotic fragility of the erythrocytes of affected patients was decreased and the increase in fragility

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Section: Methodsmentioning

confidence: 99%

“…Since this paper was submitted for publication, one of the patients (III-26) was demonstrated to have an elevated ATPase activity (51) in her erythrocytes, and the 2,3-diphosphoglycerate content (50) was normal. Thus, ATPase and 2,3-diphosphoglycerate mutase deficiency were considered not to be associated with this hemolytic disorder.…”

Section: Addendummentioning

confidence: 99%

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

Jaffé¹,

Gottfried²

1968

J. Clin. Invest.

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“…(2) glucose-6-phosphate dehydrogenase (G6PDH), according to the method of Kornberg and H orecker [29]; (3) NADH-glutathione reductase (NADH-GR) and NADPH-glutathione reduc tase (NADPH-GR) by Racker's method [45]; (4) enzymes of the Embden-Meyerhoff-Parnas glycolytic cycle: hexokinase (HK), according to Crane and Sols [15]; phosphofructokinase (PFK), according to L ing et al [33]; aldolase (ALD), according to Bruns [6]; triosophosphate isomerase (TPI), according to Beisenherz [2]; phosphoglyceraldehyde phosphate dehydroge nase (GAPDH), according to Beisenherz et al [3]; enolase (ENOL), according to Bucher [7]; pyruvate kinase (PK), according to Bucher [50]; (6) adenosine triphosphatase (ATP-ase), according to H arvald et al [27]. Previous articles should be consulted for details concerning slight modifications of the techniques [22,34].…”

Section: Methodsmentioning

confidence: 99%

Hereditary Elliptocytosis

Torlontano¹,

Fontana²,

A³

et al. 1972

Acta Haematol

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The of the erythrocyte biochemistry in 15 cases of hereditary elliptocytosis, shown and both before and after incubation with APHand an increase of G6PDH, NAPDH-GR, HK, PFK, ENOL, and LDH activities. A slight decrease in ALD and ATP-ase was also observed. The raised values of many enzymatic activities may be a consequence of hy-perhaemolysis and thus the presence of a young erythrocyte population containing an increased concentration of enzymes. The normal but low values of ATP-ase and the ALD deficiency may be the result of structural alterations of the erythrocyte membrane.

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“…Glucose-6-phosphate dehydrogenase (Zinkham et al 1958), pyruvate kinase (Tanaka et al 1962), triose phosphate isomerase (Schneider et al 1965), 2,3-diphosphoglyceromutase (Schroter 1965, Schroter et al 1966), ATP-ase (Harvald et al 1964), catalase (Takahara et al 1960), and lactate production of erythrocytes (Tada 1966) were found to be normal in their activity (cf. Table 2).…”

Section: Case Reportmentioning

confidence: 99%