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Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.
Features include always present findings: Reduced circulating pyrimidine 5-prime-nucleotidase activity, Hyperbilirubinemia, Red blood cell destruction (hemolytic anemia), and Increased immature red blood cells (reticulocytosis); and sometimes findings: Hemoglobinuria.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Hemoglobinuria, Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis) |
Lab test results | 1 | Hyperbilirubinemia |
NT5C3A encodes 5'-nucleotidase, cytosolic IIIA (336 aa). Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate Highest expression in Cells EBV-transformed lymphocytes (106.4 TPM) and Muscle Skeletal (31.6 TPM).
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is associated with mutations in the NT5C3A gene on chromosome 7.
NT5C3A is classified as a druggable target (Enzyme category) with score 1.1.
Genetic testing for NT5C3A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
2 publications have been identified in PubMed for hemolytic anemia due to pyrimidine 5' nucleotidase deficiency. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Patir DC (2025). [PMID: 39967523](https://pubmed.ncbi.nlm.nih.gov/39967523/). *Clinical laboratory*. [Case Report / Case Series]
Youssef EM (2024). [PMID: 38638374](https://pubmed.ncbi.nlm.nih.gov/38638374/). *J Clin Transl Hepatol*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:33 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center