Living with Diamond-Blackfan anemia
A condition of the bone marrow that makes too few red blood cells, usually found in the first year of life.
Understanding Diamond-Blackfan anemia
Red blood cells carry oxygen. The shortage (anemia) usually shows in the first year of life. Many people also have physical differences in parts of the body. People have a higher chance of myelodysplastic syndrome, acute myeloid leukemia, osteosarcoma, and other cancers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia (too few red blood cells)
- Tiredness (lethargy)
- Pale skin (pallor)
- Slow growth
- Large red blood cells
- Head and facial differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, brain and nervous system specialists, cancer specialists and ear, nose, and throat specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Diamond Blackfan Anemia Foundation, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: aase syndrome; aase-smith ii syndrome; aregenerative anemia chronic congenital; blackfan - diamond syndrome; blackfan diamond syndrome; blackfan-diamond anaemia
Patient organizations
- Diamond Blackfan Anemia Foundation, Inc.Diamond-Blackfan anemia · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Diamond-Blackfan anemia.
Explore research for Diamond-Blackfan anemia
Explore actively recruiting Diamond-Blackfan anemia studies with HealthSpark.
Find actively recruiting studies for Diamond-Blackfan anemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Diamond-Blackfan anemia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Diamond-Blackfan anemia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Diamond-Blackfan anemia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.