Overview
Diamond-Blackfan anemia (DBA), also known as Blackfan-Diamond anemia or congenital pure red cell aplasia, is a rare inherited bone marrow failure syndrome characterized by a selective deficiency in red blood cell precursors. The condition typically presents in the first year of life with severe macrocytic anemia, often accompanied by reticulocytopenia (a low number of immature red blood cells). DBA primarily affects the hematopoietic (blood-forming) system, but approximately 50% of patients also have congenital anomalies, which may include craniofacial malformations (such as cleft palate and a flat nasal bridge), upper limb abnormalities (particularly triphalangeal or absent thumbs), cardiac defects, and short stature. The condition results from defects in ribosomal protein genes, with mutations in RPS19 being the most common, accounting for approximately 25% of cases. Over 20 other ribosomal protein genes have been implicated, including RPL5, RPL11, RPS26, RPL35A, and others. The primary treatment for DBA includes corticosteroids, to which approximately 80% of patients initially respond, though sustained response rates are lower. Patients who are steroid-refractory or steroid-dependent at unacceptably high doses require chronic red blood cell transfusions with iron chelation therapy to prevent iron overload. Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment and is typically considered for transfusion-dependent patients who have a suitable donor. Patients with DBA have an increased risk of developing certain cancers, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and solid tumors such as osteosarcoma and colon cancer. Lifelong monitoring is essential, and spontaneous remissions occur in approximately 20% of patients, though relapse can happen. Gene therapy approaches are under investigation as potential future treatments.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
7 eventsApriligen, Inc. — PHASE1
Northwell Health — NA
University of Calgary — PHASE2
St. Jude Children's Research Hospital
Diane George — PHASE1, PHASE2
National Cancer Institute (NCI) — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableDyural 80-Lm
pure red cell aplasia
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
National Cancer Institute - Shady Grove
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Diamond-Blackfan anemia.
Community
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Start the conversation →Latest news about Diamond-Blackfan anemia
Disease timeline:
New recruiting trial: Nonmyeloablative Stem Cell Transplant in Children with Sickle Cell Disease and a Major ABO-Incompatible Matched Sibling Donor
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: Familial Investigations of Childhood Cancer Predisposition
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: Diamond Blackfan Anemia Registry (DBAR)
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: Investigation of the Genetics of Hematologic Diseases
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: French National Registry of Bone Marrow Failures
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New recruiting trial: Cancer in Inherited Bone Marrow Failure Syndromes
A new clinical trial is recruiting patients for Diamond-Blackfan anemia
New trial: Cancer in Inherited Bone Marrow Failure Syndromes
Phase NA trial recruiting.
New trial: Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome
Phase NA trial recruiting. Mobilization Regimen
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.
Common questions about Diamond-Blackfan anemia
What is Diamond-Blackfan anemia?
Diamond-Blackfan anemia (DBA), also known as Blackfan-Diamond anemia or congenital pure red cell aplasia, is a rare inherited bone marrow failure syndrome characterized by a selective deficiency in red blood cell precursors. The condition typically presents in the first year of life with severe macrocytic anemia, often accompanied by reticulocytopenia (a low number of immature red blood cells). DBA primarily affects the hematopoietic (blood-forming) system, but approximately 50% of patients also have congenital anomalies, which may include craniofacial malformations (such as cleft palate and a
How is Diamond-Blackfan anemia inherited?
Diamond-Blackfan anemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Diamond-Blackfan anemia typically begin?
Typical onset of Diamond-Blackfan anemia is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Diamond-Blackfan anemia?
Yes — 6 recruiting clinical trials are currently listed for Diamond-Blackfan anemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Diamond-Blackfan anemia?
25 specialists and care centers treating Diamond-Blackfan anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Diamond-Blackfan anemia?
1 patient support program are currently tracked on UniteRare for Diamond-Blackfan anemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.