Living with Xerocytosis
A rare inherited blood condition in which red blood cells lose water and break down early, causing mild to moderate anemia.
Understanding Xerocytosis
The red cells are dehydrated because of a problem with how salts move across the cell wall. This causes mild to moderate anemia from early breakdown of red cells (hemolysis). Sometimes potassium leaks out of the cells if a blood sample sits at room temperature. GARD lists onset during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia (red cells break down early)
- Enlarged spleen (splenomegaly)
- Gallstones
- Many young red blood cells (reticulocytosis)
- Pale, large red blood cells
- Episodic tiredness
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 the condition comes from a defect in how salts pass through red blood cell walls. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: dehydrated hereditary stomatocytosis; dessicocytosis; hereditary xerocytosis
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 Xerocytosis.
Explore research for Xerocytosis
Explore actively recruiting Xerocytosis studies with HealthSpark.
Find actively recruiting studies for Xerocytosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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