Living with Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
A rare inherited blood condition with mild, long-term anemia and an enlarged spleen.
Understanding Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Red blood cells have too much of an enzyme called adenosine deaminase, which leads to early breakdown. People have mild, long-term anemia, more young red blood cells, an enlarged spleen, and mildly raised bilirubin. GARD says other cells and tissues are not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from red blood cell breakdown
- More young red blood cells (reticulocytosis)
- Mouth-shaped red blood cells (stomatocytosis)
- Enlarged spleen
- Slightly raised bilirubin
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 GATA1 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 is caused by changes in the GATA1 gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: adenosine deaminase, elevated, hemolytic anaemia due to; adenosine deaminase, elevated, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 9; cnsha9; erythrocyte ada, elevated, hemolytic anemia due to
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
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