Living with Hereditary spherocytosis
An inherited red blood cell condition that can cause anemia, yellow skin and eyes, and an enlarged spleen.
Understanding Hereditary spherocytosis
There are four forms: mild, moderate, moderate/severe, and severe. People with the mild form may have very mild anemia or none. The moderate form brings anemia, jaundice, and an enlarged spleen, often with gallstones. Newborns often have severe anemia that improves after the first year. People with the severe form need frequent blood transfusions and may have short stature, delayed puberty, and bone differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia
- Yellowing of skin and eyes (jaundice)
- Enlarged spleen
- Gallstones
- Pale skin
- Enlarged liver
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
GARD says changes in genes (also called variants) cause this condition. It can be autosomal dominant or autosomal recessive.
Also known as: congenital spherocytic hemolytic anaemia; congenital spherocytic hemolytic anemia; congenital spherocytosis; familial acholuric jaundice; familial spherocytosis; hs - hereditary spherocytosis
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 spherocytosis.
Explore research for Hereditary spherocytosis
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