A family with red cell pyrimidine 5'-nucleotidase deficiency.
نویسندگان
چکیده
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.
منابع مشابه
Hemolytic 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...
متن کاملA 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 ’ - Nucleoti
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 کاملInteraction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.
A Bangladeshi family is described in which the genes for both hemoglobin E (Hb E) and pyrimidine 5' nucleotidase deficiency are segregating. An individual homozygous for both these conditions has a severe hemolytic anemia, whereas family members who are homozygous for Hb E are asymptomatic and those homozygous for pyrimidine 5' nucleotidase deficiency have the mild hemolytic anemia that is char...
متن کاملIdentification of cytidine diphosphodiesters in erythrocytes from a patient with pyrimidine nucleotidase deficiency.
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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ورودعنوان ژورنال:
- Blood
دوره 47 6 شماره
صفحات -
تاریخ انتشار 1976