Overview
Constitutional dyserythropoietic anemia (CDA) is a group of rare inherited blood disorders that affect the way red blood cells are produced in the bone marrow. In healthy people, the bone marrow makes red blood cells through a well-organized process. In CDA, this process goes wrong, leading to abnormal red blood cell development (called dyserythropoiesis). This means the body cannot make enough healthy red blood cells, resulting in anemia — a condition where the blood cannot carry enough oxygen to the body's tissues. The main symptoms of CDA include fatigue, pale skin, weakness, and sometimes jaundice (yellowing of the skin and eyes). Because the body breaks down the abnormal red blood cells faster than normal, iron can build up in the body over time, which can damage organs like the heart and liver. Some patients may also develop an enlarged spleen. The severity of CDA varies widely — some people have mild anemia that barely affects daily life, while others need regular blood transfusions. There are several types of CDA (Type I, II, III, and others), each caused by different genetic changes. Treatment depends on the type and severity and may include blood transfusions, iron chelation therapy to remove excess iron, splenectomy (removal of the spleen) in certain cases, and supportive care. In severe cases, bone marrow transplantation may be considered. Research is ongoing to better understand these conditions and develop more targeted treatments.
Key symptoms:
Fatigue and tirednessPale skinWeaknessJaundice (yellowing of skin and eyes)Enlarged spleenEnlarged liverIron overload in the bodyDark-colored urineGallstonesShortness of breath during activitySlow growth in childrenBone changes (in severe cases)Heart problems from iron buildupLeg ulcers (in some types)
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Constitutional dyserythropoietic anemia.
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Specialists
View all specialists →No specialists are currently listed for Constitutional dyserythropoietic anemia.
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 Constitutional dyserythropoietic anemia.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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 specific type of CDA do I (or my child) have, and what gene is involved?,How severe is the anemia, and will blood transfusions be needed?,What is my current iron level, and do I need iron chelation therapy?,Should I consider genetic counseling for family planning purposes?,Are there any clinical trials or new treatments available for my type of CDA?,How often should I have blood tests and organ function monitoring?,Is bone marrow transplantation an option in my case, and what are the risks and benefits?
Common questions about Constitutional dyserythropoietic anemia
What is Constitutional dyserythropoietic anemia?
Constitutional dyserythropoietic anemia (CDA) is a group of rare inherited blood disorders that affect the way red blood cells are produced in the bone marrow. In healthy people, the bone marrow makes red blood cells through a well-organized process. In CDA, this process goes wrong, leading to abnormal red blood cell development (called dyserythropoiesis). This means the body cannot make enough healthy red blood cells, resulting in anemia — a condition where the blood cannot carry enough oxygen to the body's tissues. The main symptoms of CDA include fatigue, pale skin, weakness, and sometimes