Living with Congenital dyserythropoietic anemia
A rare group of inherited blood conditions in which red blood cells do not mature normally, causing anemia and tiredness.
Understanding Congenital dyserythropoietic anemia
Immature red blood cells do not become normal, mature cells, so there are fewer working red blood cells. Anemia is usually mild to moderate, but can be severe enough to need frequent transfusions. The body can also absorb too much iron. There are several types, each with a different genetic cause. It often starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these:
- Tiredness (fatigue)
- Weakness
- Yellow skin and eyes (jaundice)
- Enlarged liver and spleen
- Too much iron in the body (iron overload)
- Gallstones in type II
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
Each type has a different genetic cause. GARD lists autosomal dominant, autosomal recessive and X-linked inheritance.
Also known as: anemia, congenital dyserythropoietic; cda; cda - congenital dyserythropoietic anemia; congenital dyshaematopoietic anaemia; congenital dyshaematopoietic anemia
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.
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