Overview
Congenital dyserythropoietic anemia (CDA) is a group of rare inherited blood disorders characterized by ineffective erythropoiesis (the process by which red blood cells are produced in the bone marrow). The hallmark of CDA is the presence of abnormal, multinucleated erythroblasts in the bone marrow, leading to chronic anemia of variable severity. The condition primarily affects the hematologic system, but secondary iron overload — which occurs even without blood transfusions due to increased intestinal iron absorption — can damage the liver, heart, and endocrine organs over time. There are three classical types of CDA. CDA type I (caused by mutations in CDAN1 or C15orf41) is characterized by megaloblastic changes and internuclear chromatin bridges in erythroblasts. CDA type II (also known as HEMPAS, caused by SEC23B mutations) is the most common form and features binucleated erythroblasts and a positive acidified serum lysis test. CDA type III (linked to KIF23 mutations) is the rarest classical form and is characterized by giant multinucleated erythroblasts. Additional variant forms have also been described. Common symptoms across all types include anemia (ranging from mild to transfusion-dependent), jaundice, splenomegaly, hepatomegaly, and gallstones. Some patients may present with skeletal abnormalities, particularly in type I. Treatment depends on the type and severity of the disease. Interferon-alpha has shown efficacy in CDA type I, often improving anemia significantly. Splenectomy may benefit patients with CDA type II who have significant splenomegaly and transfusion dependence. Iron chelation therapy is frequently necessary to manage iron overload. Blood transfusions are used for severe anemia. Hematopoietic stem cell transplantation (HSCT) has been performed in severe cases and represents the only curative option currently available. Supportive care including folic acid supplementation is commonly recommended.
Also known as:
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsVA Office of Research and Development — NA
University of Rochester — PHASE2
VA Office of Research and Development — NA
VA Office of Research and Development — NA
VA Office of Research and Development — NA
Institute of Hematology & Blood Diseases Hospital, China — PHASE1
First Affiliated Hospital of Zhejiang University — PHASE2
VA Office of Research and Development — NA
University Hospital, Strasbourg, France
Stanford University — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital dyserythropoietic anemia.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
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 Congenital dyserythropoietic anemia.
Community
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Start the conversation →Latest news about Congenital dyserythropoietic anemia
Disease timeline:
New recruiting trial: Pilot Study of Hospital GamePlan4Care
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: A Phase II Study of Cladribine and Low Dose Cytarabine in Combination With Venetoclax, Alternating With Azacitidine and Venetoclax, in Patients With Higher-risk Myeloproliferative Chronic Myelomonocytic Leukemia or Higher-risk Myelodysplastic Syndromes With Excess Blasts
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Venetoclax, Cladribine, Low Dose Cytarabine, and Azacitidine in Treating Patients With Previously Untreated Acute Myeloid Leukemia
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Expanding Exercise Programming for Veterans Through Telehealth
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Alternating Regimen of VA and Low-dose CHA in the Treatment of Unfit Newly Diagnosed AML
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Tagraxofusp and Low-Intensity Chemotherapy for CD123-Positive Relapsed or Refractory AML
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Cladribine Venetoclax in Monocytic AML
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: CAV Regimen for R/R AML
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Thiotepa, Cyclophosphamide, Clarithromycin and Cytarabine
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
New recruiting trial: Comparison of VA (Venetoclax, Azacitidine), VACl (VA, Cladribine), VACh (VA, Chidamide), and Alternating VACl/VACh in Newly Diagnosed Acute Myeloid Leukemia
A new clinical trial is recruiting patients for Congenital dyserythropoietic anemia
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Common questions about Congenital dyserythropoietic anemia
What is Congenital dyserythropoietic anemia?
Congenital dyserythropoietic anemia (CDA) is a group of rare inherited blood disorders characterized by ineffective erythropoiesis (the process by which red blood cells are produced in the bone marrow). The hallmark of CDA is the presence of abnormal, multinucleated erythroblasts in the bone marrow, leading to chronic anemia of variable severity. The condition primarily affects the hematologic system, but secondary iron overload — which occurs even without blood transfusions due to increased intestinal iron absorption — can damage the liver, heart, and endocrine organs over time. There are th
Are there clinical trials for Congenital dyserythropoietic anemia?
Yes — 3 recruiting clinical trials are currently listed for Congenital dyserythropoietic anemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Congenital dyserythropoietic anemia?
8 specialists and care centers treating Congenital dyserythropoietic anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.