Living with Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
A rare inherited blood condition with mild to moderate anemia that starts in the newborn period or infancy.
Understanding Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
The anemia is mild to moderate. People can have yellowing of the skin and eyes (jaundice), an enlarged spleen and liver, and gallstones. Some need blood transfusions. Rare cases of mild developmental delay and learning difficulties are reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from red blood cell breakdown
- More young red blood cells (reticulocytosis)
- Yellowing of skin and eyes (jaundice)
- Enlarged spleen and liver
- Gallstones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in NT5C3A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the NT5C3A gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: anemia, congenital, nonspherocytic hemolytic, 8; anemia, hemolytic, due to umph1 deficiency; cnsha8; hemolytic anemia due to p5n deficiency; hemolytic anemia due to umph1 deficiency; p5n deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
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Perspectives from people navigating life with Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency.
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