Living with Diamond-Blackfan anemia 3
A form of Diamond-Blackfan anemia in which the bone marrow makes too few red blood cells.
Understanding Diamond-Blackfan anemia 3
In its classic form, white blood cells and platelets are normal. Up to 50% of people have birth differences, and 30% have slow growth. About 90% have blood problems in the first year of life. Severity ranges from mild to severe. DBA is linked with a higher chance of acute myeloid leukemia, myelodysplastic syndrome, and some solid tumors.
Signs & symptoms
GARD's list of less common features includes:
- Webbed neck
- Large red blood cells (macrocytic anemia)
- Fetal hemoglobin remaining in the blood
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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.
- 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 doesn't name a gene. It lists autosomal dominant inheritance, so a changed copy of the gene from one parent can be enough.
Also known as: dba3; diamond-blackfan anaemia caused by mutation in rps24; diamond-blackfan anaemia type 3; diamond-blackfan anemia caused by mutation in rps24; diamond-blackfan anemia type 3; rps24 diamond-blackfan anaemia
Patient organizations
- Diamond Blackfan Anemia Foundation, Inc.Diamond-Blackfan anemia 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Diamond-Blackfan anemia 3.
Explore research for Diamond-Blackfan anemia 3
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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