Living with Hereditary elliptocytosis
A group of inherited blood conditions in which red blood cells are oval-shaped, from very mild to severe.
Understanding Hereditary elliptocytosis
Symptoms range from very mild to severe. They can include tiredness, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people have an enlarged spleen. A related condition, hereditary pyropoikilocytosis, has more serious symptoms. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Oval-shaped red blood cells (elliptocytosis)
- Fragile red blood cells
- Tiredness (fatigue)
- Yellowing of skin and eyes (jaundice)
- Enlarged spleen
- Gallstones
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 is caused by a change in the EPB41, SPTA1, or SPTB gene. It is usually autosomal dominant. The related pyropoikilocytosis is autosomal recessive.
Also known as: congenital elliptocytosis; hashimoto encephalopathy; he; he - hereditary elliptocytosis; hereditary ovalocytosis; ovalocytosis
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 Hereditary elliptocytosis.
Explore research for Hereditary elliptocytosis
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