Haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of the first South African family.
The first South African case of haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency is reported. The anaemia is characterized by the presence of high erythrocyte pyrimidine nucleotide levels and marked basophilic stippling. The enzyme levels in 20 family members confirm an autosomal recessive mode of inheritance and illustrate the difficulty of diagnosing the carrier state.
D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007585:Jews; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D010375:Pedigree; D011742:Pyrimidine Nucleotides; D013019:South Africa
D011742:Pyrimidine Nucleotides; D009708:Nucleotidases