Living with Congenital dyserythropoietic anemia, type II
An inherited blood condition with mild to severe anemia, usually found in the teen or young adult years, with a risk of too much iron.
Understanding Congenital dyserythropoietic anemia, type II
It is usually diagnosed in adolescence or early adulthood. Many people have yellow skin and eyes (jaundice), an enlarged liver and spleen, and gallstones. The body absorbs too much iron, which can build up and affect the heart, liver and blood sugar. Rarely, people have tumors in the middle of the chest (mediastinal tumors).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from poor red blood cell production
- Yellow skin and eyes (jaundice)
- Enlarged spleen
- Gallstones
- Too much iron in the body (iron overload)
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.
- 3Consider genetic testing
Changes in SEC23B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 SEC23B gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cda ii; cda type 2; cda type ii; cdan2; congenital dyserythropoietic anemia type 2; congenital dyserythropoietic anemia type ii
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 II.
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