Overview
Anemia due to adenosine triphosphatase (ATPase) deficiency is an extremely rare inherited blood disorder that has been described in medical literature but is now considered an obsolete diagnostic category. This condition was originally characterized by a deficiency of ATPase enzymes in red blood cells, which led to the premature destruction of these cells (a process called hemolysis), resulting in hemolytic anemia. Red blood cells need ATPase enzymes to maintain their shape, flexibility, and ability to carry oxygen throughout the body. When these enzymes are lacking or not working properly, red blood cells become fragile and break down faster than the body can replace them. Patients with this condition may experience symptoms typical of hemolytic anemia, including fatigue, pale skin, shortness of breath, jaundice (yellowing of the skin and eyes), and an enlarged spleen. The severity can vary from mild to more significant anemia requiring medical attention. This diagnosis has been reclassified as obsolete in modern medical databases, meaning that cases previously labeled under this condition are now more precisely categorized under other red blood cell enzyme deficiency disorders. Advances in genetic testing and enzyme analysis have allowed doctors to identify the specific enzyme defects more accurately. Treatment has generally been supportive, focusing on managing anemia symptoms, and may include blood transfusions in severe cases, folic acid supplementation, and monitoring for complications related to chronic hemolysis.
Key symptoms:
Fatigue and low energyPale skinYellowing of the skin and eyes (jaundice)Shortness of breathRapid heartbeatEnlarged spleenDark-colored urineDizziness or lightheadednessWeaknessGallstones at a young age
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 OBSOLETE: Anemia due to adenosine triphosphatase 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
No travel grants are currently matched to OBSOLETE: Anemia due to adenosine triphosphatase deficiency.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.What is the exact cause of my anemia, and can genetic testing help clarify the diagnosis?,How severe is my condition, and how often will I need blood tests?,Will I or my child need blood transfusions, and if so, how often?,Should I take folic acid or any other supplements?,Are there activities or medications I should avoid that could worsen the anemia?,Is splenectomy something that might help in my case?,What are the chances of passing this condition to my children?
Common questions about OBSOLETE: Anemia due to adenosine triphosphatase deficiency
What is OBSOLETE: Anemia due to adenosine triphosphatase deficiency?
Anemia due to adenosine triphosphatase (ATPase) deficiency is an extremely rare inherited blood disorder that has been described in medical literature but is now considered an obsolete diagnostic category. This condition was originally characterized by a deficiency of ATPase enzymes in red blood cells, which led to the premature destruction of these cells (a process called hemolysis), resulting in hemolytic anemia. Red blood cells need ATPase enzymes to maintain their shape, flexibility, and ability to carry oxygen throughout the body. When these enzymes are lacking or not working properly, re
How is OBSOLETE: Anemia due to adenosine triphosphatase deficiency inherited?
OBSOLETE: Anemia due to adenosine triphosphatase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.