Hereditary haemolytic anaemia due to red cell pyrimidine 5‘-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy
- 1 March 1981
- journal article
- case report
- Published by Wiley in Clinical and Laboratory Haematology
- Vol. 3 (1), 27-34
- https://doi.org/10.1111/j.1365-2257.1981.tb01306.x
Abstract
Hereditary haemolytic anaemia with basophilic stippling caused by pyrimidine 5'-nucleotidase deficiency is described in three members of two unrelated Irish families. In one family, the disease was moderately severe and the patient's condition was improved by splenectomy. In the other family the haemolytic anaemia was well compensated. In neither family was there a marked elevation of reduced glutathione. The implications are that pyrimidine 5'-nucleotidase deficiency is a heterogeneous disorder, both clinically and biochemically. In more severe forms splenectomy may be beneficial.Keywords
This publication has 11 references indexed in Scilit:
- Red Cell Pyrimidine 5'-Nucleotidase and Glutathione in Myeloproliferative and Lymphoproliferative DisordersBritish Journal of Haematology, 1980
- Lead poisoning: association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines.JCI Insight, 1976
- Effects of low-level lead exposure on pyrimidine 5'-nucleotidase and other erythrocyte enzymes. Possible role of pyrimidine 5'-nucleotidase in the pathogenesis of lead-induced anemia.JCI Insight, 1975
- The Spleen and Haemolytic DisordersClinics in Haematology, 1975
- Hereditary Hemolytic Anemia with Human Erythrocyte Pyrimidine 5′-Nucleotidase DeficiencyJCI Insight, 1974
- Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New KindredsBritish Journal of Haematology, 1973
- Studies on Human Erythrocyte Nucleotide Metabolism. II. Nonspherocytic Hemolytic Anemia, High Red Cell ATP, and Ribosephosphate Pyrophosphokinase (RPK, E.C. 2.7.6.1) DeficiencyBlood, 1972
- Life-Span and Organ Sequestration of the Red Cells in Pyruvate Kinase DeficiencyNew England Journal of Medicine, 1968
- A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase DeficiencyBlood, 1966