Overview
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (also called P5N deficiency or P5'N-1 deficiency) is a rare inherited blood disorder. It affects red blood cells, which are the cells that carry oxygen around your body. In this condition, an enzyme called pyrimidine 5' nucleotidase does not work properly. This enzyme is responsible for clearing out certain waste products inside red blood cells. When it does not work, these waste products build up and damage the red blood cells, causing them to break apart too early. This process is called hemolysis, and it leads to a type of anemia called hemolytic anemia. The main symptoms come from having too few healthy red blood cells. People with this condition often feel very tired, look pale, and may develop yellowing of the skin or eyes (jaundice). The spleen, which filters damaged blood cells, often becomes enlarged because it is working overtime. Some people also develop gallstones at a younger age than usual because of the breakdown of red blood cells. This condition is usually mild to moderate in severity, and many people live relatively normal lives with proper monitoring and care. Treatment focuses on managing symptoms. In more severe cases, blood transfusions or removal of the spleen (splenectomy) may be considered. There is currently no cure, but ongoing research into red blood cell enzyme disorders continues to improve understanding and care.
Key symptoms:
Persistent tiredness and low energy (fatigue)Pale skin or pale appearance inside the eyelidsYellowing of the skin or whites of the eyes (jaundice)Enlarged spleen, which may cause discomfort or fullness in the upper left bellyGallstones, sometimes at a young ageShortness of breath, especially during physical activityRapid or irregular heartbeatDark-colored urineMild intellectual difficulties in some cases (reported in a subset of patients)Slow growth or delayed development in children in severe cases
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) anemia, and what level of activity is safe?,How often do I need blood tests to monitor my condition?,Should I be taking folic acid, and what dose is right for me?,What are the warning signs of a hemolytic crisis, and when should I go to the emergency room?,Is spleen removal something I should consider, and what are the risks and benefits?,Should other family members be tested for this condition?,Are there any medications, foods, or activities I should avoid?
Common questions about Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
What is Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency?
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (also called P5N deficiency or P5'N-1 deficiency) is a rare inherited blood disorder. It affects red blood cells, which are the cells that carry oxygen around your body. In this condition, an enzyme called pyrimidine 5' nucleotidase does not work properly. This enzyme is responsible for clearing out certain waste products inside red blood cells. When it does not work, these waste products build up and damage the red blood cells, causing them to break apart too early. This process is called hemolysis, and it leads to a type of anemia
How is Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency inherited?
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.