A Family With Red Cell Pyrimidine 5 ’ - Nucleoti
نویسندگان
چکیده
Congenital hemolytic anemia associated fancy. The peripheral blood smear is charwith pyrimidine 5’-nucleotidase deficiency acterized by striking red cell basophilic is reported in two siblings. Both have had stippling. As this feature has been found moderate chronic hemolytic anemia, splein all previously reported cases, it should nomegaly, and jaundice since early inbe the clue to the diagnosis.
منابع مشابه
A Family With Red Cell Pyrimidine 5 ’ - Nucleoti . lase Deficiency
Congenital hemolytic anemia associated fancy. The peripheral blood smear is charwith pyrimidine 5’-nucleotidase deficiency acterized by striking red cell basophilic is reported in two siblings. Both have had stippling. As this feature has been found moderate chronic hemolytic anemia, splein all previously reported cases, it should nomegaly, and jaundice since early inbe the clue to the diagnosis.
متن کاملA family with red cell pyrimidine 5'-nucleotidase deficiency.
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.
متن کاملHemolytic anemia due to pyrimidine-5'-nucleotidase deficiency: report of eight cases in six families.
We describe the clinical. hematologic. and biochemical findings in eight patients with pyrimidine-5’-nucleotidase deficiency occurring in six unrelated families. In most cases, a profound lowering of red cell pyrimidine-5’-nucleotidase activity. associated with the characteristic change in the u.v. spectrum brought about by increased levels of pyrimidine nucleotides was observed. One patient ha...
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Pyrimidine 5'-nucleotidase deficient (PND) erythrocytes contain elevated levels of pyrimidine nucleotides and relatively normal purine nucleotide levels. The composition of this nucleotide pool has been examined by others, but not all of the abnormal red cell metabolites in this disorder were identified. We have isolated and positively confirmed the identity of cytidine diphosphate (CDP)-cholin...
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Background: Erythrocytes require an ability to deform and to withstand shear stress while negotiating the microcirculation. These properties are largely due to their excess surface area per volume and the characteristics of the membrane’s protein. Deficiencies of these proteins are associated with chronic haemolysis. Methods: This was a cross sectional study aimed at determining the prevalenc...
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