Living with Southeast Asian ovalocytosis
An inherited red blood cell condition with oval-shaped cells that often causes no symptoms or only mild ones.
Understanding Southeast Asian ovalocytosis
Red blood cells are oval in shape. Most people have no symptoms, though some have mild symptoms such as paleness, jaundice, anemia and gallstones. 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
- Paleness from anemia
- Tiredness
- Jaundice (yellow skin and eyes)
- Enlarged spleen
- Less ability to exercise
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 SLC4A1 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
GARD lists changes in the SLC4A1 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: elliptocytosis 4; he, stomatocytic; melanesian elliptocytosis; melanesian ovalocytosis; ovalocytosis, malaysian-melanesian-filipino type; ovalocytosis, sa type
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 Southeast Asian ovalocytosis.
Explore research for Southeast Asian ovalocytosis
Explore actively recruiting Southeast Asian ovalocytosis studies with HealthSpark.
Find actively recruiting studies for Southeast Asian ovalocytosis 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Southeast Asian ovalocytosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Southeast Asian ovalocytosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Southeast Asian ovalocytosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.