Living with Congenital dyserythropoietic anemia, type I
An inherited blood condition with moderate to severe anemia, usually found in childhood, and a risk of too much iron in the body.
Understanding Congenital dyserythropoietic anemia, type I
It is usually diagnosed in childhood or adolescence, though sometimes it is found before birth. Many people have yellow skin and eyes (jaundice) and an enlarged liver and spleen. The body also absorbs too much iron, which can build up and affect the heart, liver and blood sugar. Rarely, babies are born with finger or toe differences.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Moderate to severe anemia
- Yellow skin and eyes (jaundice)
- Enlarged liver and spleen
- Too much iron in the body (iron overload)
- Finger or toe differences (rare)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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
It usually results from changes in the CDAN1 gene (about 90 percent of cases) or the C15ORF41 gene (about 1 percent). In about 9 percent no cause is found. It is autosomal recessive.
Also known as: cda i; cda type 1; cda type i; congenital dyserythropoietic anemia type 1; congenital dyserythropoietic anemia type i; dyserythropoietic anemia, congenital type 1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital dyserythropoietic anemia, type I.
Explore research for Congenital dyserythropoietic anemia, type I
Explore actively recruiting Congenital dyserythropoietic anemia, type I studies with HealthSpark.
Find actively recruiting studies for Congenital dyserythropoietic anemia, type I 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 Congenital dyserythropoietic anemia, type I 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 Congenital dyserythropoietic anemia, type I
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 Congenital dyserythropoietic anemia, type I 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.