Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein synthesis.

Chottiner, E G; Cloft, Harry J.; Tartaglia, Anthony P.; Mitchell, Beverly S.

doi:10.1172/jci112866

Cited by 14 publications

(7 citation statements)

References 24 publications

(11 reference statements)

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“…6 Increased ADA level in red blood cells is seen in cases of hereditary hemolytic anemia and in case of acquired immunodeficiency syndrome. 7,8 CB-NAAT which was earlier employed mainly for diagnosing multidrug resistant tuberculosis has now been approved by the revised national tuberculosis control programme (RNTCP) for diagnosing extrapulmonary tuberculosis. 3 The sensitivity of nucleic acid amplification test, Xpert MTB/RIF ranged from (70-100)% in most of the extrapulmonary samples but was much lower around (40-50)% in the pleural fluid.…”

Section: Discussionmentioning

confidence: 99%

The advantage of PCR for MTB in comparison to ADA in diagnosing tubercular pleural effusion

et al. 2018

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Background: Tuberculosis continues to be an important health problem globally. The bacteriological confirmation of diagnosis in extrapulmonary tuberculosis patients is more difficult because most of the cases of extrapulmonary tuberculosis are paucibacillary in nature. In this study we have compared the pleural fluid ADA levels with PCR for MTB in pleural fluid to confirm the diagnosis of tuberculosis in the pleural fluid.Methods: The study was done over two years and a total of 106 patients with a clinico-radiological diagnosis of pleural effusion were enrolled for the study. The pleural fluid was aspirated and examined for total cell count, differential cell count, protein, sugar, ADA and PCR for MTB.A CT Thorax was done in all the 106 patients of pleural effusion and underlying consolidation along with pleural effusion was found in 60 patients.Results: The pleural fluid was exudative in nature in all the patients. 90 patients (84.9%) had lymphocyte predominant pleural effusion while 16 patients (15.1%) had neutrophil predominant pleural effusion. The overall sensitivity of ADA in all the cases of pleural effusion was 85.2% while the overall sensitivity of PCR for MTB in all the cases of pleural effusion was 51.1%. However, in the 60 patients of pleural effusion with underlying lung consolidation, the overall sensitivity of ADA was 69.1% while the overall sensitivity of PCR for MTB was 92.8% for diagnosing tubercular pleural effusion.Conclusions: PCR for MTB is a useful test along with ADA for diagnosing tubercular pleural effusion. PCR for MTB is especially useful in the diagnosis of tubercular pleural effusion in patients with underlying lung consolidation.

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Section: Discussionmentioning

confidence: 99%

The advantage of PCR for MTB in comparison to ADA in diagnosing tubercular pleural effusion

et al. 2018

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“…This is the first report of elevated erythrocyte ADA activity associated with primary acquired sidero- and no increase of ADA mRNA was found in the patient's reticulocytes. Chottiner et a1 [24] analysed the molecular basis of ADA overproduction associated with blastic anemia. The concentration of total adenine nucleotides in the erythrocytes was not reduced as seen in hereditary hemolytic anemia [2-4], because ADA activity was not markedly elevated to the extent of those cases.…”

Section: Discussionmentioning

confidence: 99%

“…Reticulocyte RNA from the patient.and no increase of ADA mRNA was found in the patient's reticulocytes. Chottiner et a1[24] analysed the molecular basis of ADA overproduction associated with…”

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confidence: 99%

Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia

Kanno¹,

Fujii²,

Tani³

et al. 1988

American J Hematol

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We report a case of primary acquired sideroblastic anemia (PASA) associated with elevated erythrocyte adenosine deaminase (ADA) activity. The patient was an 85-year-old Japanese male. Analysis of the peripheral blood revealed pancytopenia, and the bone marrow findings showed marked ringed sideroblasts and chromosomal deletion (46XY, 11q-). The erythrocyte ADA activity was 17 times higher than that of normal control, the leukocyte ADA activity was within the normal range, and the plasma ADA activity was 2 times higher than the normal mean. The adenine nucleotides in the patient's erythrocytes were within normal range. According to starch gel electrophoresis, ADA isozyme of the patient was ADA 1. Western blotting showed an increased amount of ADA protein in the patient's erythrocytes. Southern blotting revealed no gene amplification or large structural change. Dot blot analysis of the reticulocyte mRNA showed no increase in the amount of ADA mRNA in the patient's reticulocytes compared with those of reticulocyte-rich controls. We considered that the mechanism of elevated ADA activity in this acquired defect was similar to that found in hereditary hemolytic anemia associated with ADA overproduction.

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“…Previously, Chottiner et al had also reported that the translational efficiency of aberrant ADA mRNA was increased in the first case [96]. However, they reported more recently that Northern blot analysis performed under stringent hybridization and washing conditions confirmed a markedly increased amount of reticulocyte ADA mRNA in the patient as compared with controls [97].…”

Section: Adenosine Deaminase Overproductionmentioning

confidence: 99%

Recent progress in the molecular genetic analysis of erythroenzymopathy

Fujii¹,

Shiro²

1990

American J Hematol

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During the relatively recent period in which normal genes for most red cell enzymes have been isolated, the techniques of molecular biology have been applied to the studies of erythroenzymopathy. Single nucleotide substitutions have been identified in aldolase, triosephosphate isomerase, glucose 6-phosphate dehydrogenase, and adenylate kinase variants by the cloning and nucleotide sequence of the patients' genes. Up to now, all of the enzyme-deficient variants which have been investigated have been caused by point mutations. An exception is a hemolytic anemia secondary to increased adenosine deaminase (ADA) activity. Red cell ADA activity increases on the order of a hundred-fold in affected individuals. The basic abnormality appears to result from overproduction of structurally normal enzyme due to abnormal transcriptional or translational efficiency.

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Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein synthesis.

Cited by 14 publications

References 24 publications

The advantage of PCR for MTB in comparison to ADA in diagnosing tubercular pleural effusion

The advantage of PCR for MTB in comparison to ADA in diagnosing tubercular pleural effusion

Elevated erythrocyte adenosine deaminase activity in a patient with primary acquired sideroblastic anemia

Recent progress in the molecular genetic analysis of erythroenzymopathy

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