Hemolytic Anemia Due To Pyrimidine 5 Nucleotidase Deficiency C1849507
Red blood cells are destroyed early due to deficiency of an enzyme needed to clear waste products. Causes chronic hemolytic anemia and may cause movement problems. Managed supportively.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(hematologic)Generalized symptoms
(hematologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Jaundice
(hematologic)Splenomegaly
(hematologic)Pallor
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Folic acid supplementation
High-dose folic acid to support erythroid hyperplasia and prevent megaloblastic changes from chronic hemolysis.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Red blood cell transfusion
Transfusion support during severe hemolytic episodes or when chronic anemia becomes symptomatic.
Additional treatment options
Splenectomy
Partial or total splenectomy to reduce splenic sequestration and destruction of abnormal red blood cells.
surgicalGenetic confirmation and family screening
Confirmatory genetic testing and screening of family members for affected relatives.
monitoringActivity modification during crises
Avoidance of strenuous activity and contact sports during acute hemolytic episodes to reduce oxygen demand.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hemolytic Anemia Due To Pyrimidine 5 Nucleotidase Deficiency C1849507?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Beutler E, Gelbart T. Pyrimidine 5'-nucleotidase deficiency: a review of molecular mechanisms and clinical manifestations. Blood Rev. 2020.
Thompson WG, Longshore KJ, Rose HR. Guidelines for the diagnosis and management of hereditary hemolytic anemias. Am J Hematol. 2022.
Marinaki AM, Escuredo E, Duley JA. Clinical and biochemical characterization of pyrimidine 5'-nucleotidase deficiency. Haematologica. 2019.
Rees DC, Duley JA, Marinaki AM. Pyrimidine 5'-nucleotidase deficiency: analysis of published data and therapeutic implications. Br J Haematol. 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy