1973
DOI: 10.1111/j.1365-2141.1973.tb05736.x
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Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

Abstract: The second and third kindreds with hereditary haemolytic anaemia characterized by marked basophilic stippling of the erythrocytes, increased redcell GSH and adenine nucleotides, and ribosephosphate pyrophosphokinase (RPK, PRPP synthetase) deficiency are reported. In each affected subject increased autohaemolysis was not corrected by glucose additives in the autohaemolysis test. Despite the clearly hereditary nature of the syndrome, a heterozygous 'carrier' state could not be demonstrated in any family members.… Show more

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Cited by 43 publications
(16 citation statements)
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“…In patient R., the hematological and biochemical findings coincided with those observed in patients previously reported (1,2). Hemolysis was marked, and increased basophilic stippling was a very prominent feature of the Wright's-stained blood film (Fig.…”
Section: Resultssupporting
confidence: 72%
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“…In patient R., the hematological and biochemical findings coincided with those observed in patients previously reported (1,2). Hemolysis was marked, and increased basophilic stippling was a very prominent feature of the Wright's-stained blood film (Fig.…”
Section: Resultssupporting
confidence: 72%
“…Reexamination of the recorded assays of the earlier patients revealed identical findings, which were absent in hemolysate extracts of all other hemolytic anemias studied in this laboratory over a period of several years. This report documents subsequent investigations indicating (a) the red cells of subjects with this hereditary hemolytic syndrome uniquely contain very large amounts of cytidine and uridine nucleotides, (b) the latter are partially reflected in the enzymatic assays for nucleotides and were the basis for our initial misinterpretation that adenine nucleotides were increased in patient erythrocytes (1,2), and (c) the genetically determined lesion is a severe deficiency of a pyrimidine-specific 5'-nucleotidase, an enzyme readily demonstrable in normal erythrocytes, that exhibits increased activity in reticulocytes. As will be discussed, RPK deficiency is believed to be an epiphenomenon, secondary to the relatively enormous concentrations of pyrimidine nucleotides in circulating erythrocytes and presumably in marrow nucleated precursor cells.…”
Section: Introductionmentioning
confidence: 74%
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“…This enzyme was inhibited at lead concentrations that exerted minimal effects on a wide variety of other erythrocyte enzymes assayed simultaneously. Such lead-induced impairment of pyrimidine-5'-nucleotidase activity prompts comparison with the genetically induced, severe deficiency state involving this same enzyme (13,29,30). The latter is characterized clinically by severe chronic hemolytic anemia with pronounced basophilic stippling of the erythrocytes that uniquely contain large amounts of uridine and cytidine nucleotides.…”
Section: Resultsmentioning
confidence: 99%
“…It (37) and for an individual suffering from nonspherocytic hemolytic anemia (36). The observed inhibition of PRPP synthetase from KC62 by nucleotides suggests that the PRPP synthetase has been altered by mutation.…”
mentioning
confidence: 94%