Living with Overhydrated hereditary stomatocytosis
An inherited blood condition in which red blood cells are fragile and break down too early, causing anemia.
Understanding Overhydrated hereditary stomatocytosis
In OHSt, the wall of the red blood cell lets certain charged particles (monovalent cations) pass through abnormally. The cells break down early, which causes hemolytic anemia (too few red blood cells). It is usually noticed in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia (red cells break down early)
- Cup-shaped red blood cells (stomatocytosis)
- Fragile red blood cells
- More young red blood cells than usual (reticulocytosis)
- Abnormal red cell size and hemoglobin levels
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 RHAG 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
Changes in the RHAG gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
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 Overhydrated hereditary stomatocytosis.
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