Overview
Congenital dyserythropoietic anemia type IV (CDA type IV) is an extremely rare inherited blood disorder that affects how red blood cells are made in the bone marrow. In this condition, the process of producing red blood cells (called erythropoiesis) does not work properly, leading to abnormal and ineffective red blood cell production. This results in anemia, meaning the body does not have enough healthy red blood cells to carry oxygen to tissues and organs. People with CDA type IV typically develop symptoms early in life, often at birth or during infancy. Common signs include pale skin, fatigue, jaundice (yellowing of the skin and eyes), and an enlarged spleen. The anemia can range from mild to severe. Some patients may also develop iron overload over time, even without receiving blood transfusions, because the body absorbs too much iron when red blood cell production is disrupted. CDA type IV is caused by mutations in the KLF1 gene, which plays an important role in red blood cell development. It follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the condition. Treatment is mainly supportive and may include blood transfusions for severe anemia, monitoring and management of iron overload, and in some cases splenectomy (surgical removal of the spleen). Because this disease is so rare, management is often guided by specialists experienced with congenital anemias.
Also known as:
Key symptoms:
Anemia (low red blood cell count)Pale skinFatigue and low energyJaundice (yellow skin and eyes)Enlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)Dark urineGallstonesIron overloadShortness of breath with activityFailure to thrive in infantsFetal anemia or hydrops fetalis in severe cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital dyserythropoietic anemia type IV.
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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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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the anemia, and will my child (or I) need regular blood transfusions?,Should we be tested for iron overload, and how often should iron levels be checked?,Is genetic testing recommended for other family members?,What are the signs that the anemia is getting worse and when should we seek urgent care?,Is splenectomy something we should consider, and what are the risks and benefits?,Are there any clinical trials or new treatments being studied for this condition?,What activity restrictions, if any, should be followed?
Common questions about Congenital dyserythropoietic anemia type IV
What is Congenital dyserythropoietic anemia type IV?
Congenital dyserythropoietic anemia type IV (CDA type IV) is an extremely rare inherited blood disorder that affects how red blood cells are made in the bone marrow. In this condition, the process of producing red blood cells (called erythropoiesis) does not work properly, leading to abnormal and ineffective red blood cell production. This results in anemia, meaning the body does not have enough healthy red blood cells to carry oxygen to tissues and organs. People with CDA type IV typically develop symptoms early in life, often at birth or during infancy. Common signs include pale skin, fatig
How is Congenital dyserythropoietic anemia type IV inherited?
Congenital dyserythropoietic anemia type IV follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital dyserythropoietic anemia type IV typically begin?
Typical onset of Congenital dyserythropoietic anemia type IV is neonatal. Age of onset can vary across affected individuals.