Lead Poisoning Induced Severe Hemolytic Anemia, Basophilic Stippling, Mimicking Erythrocyte Pyrimidine 5'-nucleotidase Deficiency in Beta Thalassemia Minor
نویسندگان
چکیده
Lead is a highly toxic metal and a very strong poison. Lead poisoning usually occurs over a period of months or years. The poisoning can cause severe mental and physical impairment. Young children are most vulnerable to lead poisoning [1-2]. Lead poisoning is accompanied by an acquired deficiency of erythrocyte pyrimidine 5'nucleotidase (P5’N). Genetically determined deficiency of P5’N enzyme was associated with chronic hemolysis, marked basophilic stippling of erythrocytes on peripheral blood smear and accumulations of intra-erythrocyte pyrimidine-containing nucleotides [3-4]. Pyrimidine-containing nucleotides are almost absent in the normal erythrocytes but it was reported that in lead poisoning, 12% of erythrocyte showed accumulation of pyrimidine nucleotides in the blood of a patient and P5’N activity was suppressed to 50% that in normal erythrocytes in lead poisoning [2]. In most of βthalassemia carriers and other hemoglobin variant (Hb-E) showed marginally reduced Purine/Pyrimidine nucleotide ratios but normal P5’N-1 activity [5]. This report describes the clinical severity of leadinduced hemolytic anemia in two Indian patients with basophilic stippling associated with intra-erythrocyte accumulations of pyrimidine-containing nucleotides which mimicking hereditary P5’N deficiency.
منابع مشابه
Lead poisoning: association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines.
Lead intoxication is accompanied by an acquired deficiency of erythrocyte pryimidine-specific, 5'-nucleotidase. Genetically determined deficiency of this enzyme is associated with chronic hemolysis, marked basophilic stippling of erythrocytes on stained blood films, and unique intraerythrocytic accumulations of pyrimidine-containing nucleotides. The present report documents that lead-induced de...
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Similarities between lead-induced anemia and a new hereditary erythorenzymopathy involving pyrimidine-specific 5'-nucleotidase prompted studies of the effects of lead on this and other erythrocyte enzymes. In vitro incubations of normal mature erythrocytes demonstrated that significant inhibition of pyrimidine 5'-nucleotidase occurred in the presence of lead at concentrations that had minimal e...
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Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.
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Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Recently, a protein with P5'N-1 activity was a...
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Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked basophilic stippling, and accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Recently, the structure and location of the P5N-I gene have been published. This paper presents the results of a study characterizing the molecular pathologi...
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