s case of pyrimidine 5'-nucleotidase deficiency and heterozygous [alpha]-thalassemia was an interesting co-existence (1).
We also reported a family with severe hereditary pyrimidine 5'-nucleotidase deficiency; in addition, 3 other families were also mentioned (2).
Co-Existence of Hereditary Pyrimidine 5'-Nucleotidase Deficiency and Heterozygous a-Thalassemia: A Case Presentation.
A case of hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency.
Lead inhibits heme biosynthesis and causes anemia, basophilic stippling, a decline in red cell 8-aminolevulinic acid dehydrogenase, and an increase in urinary 8-aminolevulinic acid, urinary coproporphyrin, red cell zinc protoporphyrin (ZPP), and pyrimidine 5'-nucleotidase