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southeast Asian ovalocytosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

southeast Asian ovalocytosis

MONDO:0008165

Also known as:hereditary ovalocytosisMelanesian elliptocytosisMelanesian ovalocytosis

Overview

Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.

GeneticsAutosomal dominant · SLC4A1 (chr 17)

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Elliptocytosis and Red blood cell destruction (hemolytic anemia).

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Red blood cell destruction (hemolytic anemia)

Explore clinical features

Genetic Landscape

SLC4A1 function has not been fully characterized.

Southeast Asian ovalocytosis is associated with mutations in the SLC4A1 gene on chromosome 17.

Diagnosis

Genetic testing for SLC4A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for southeast Asian ovalocytosis.

2 publications have been identified in PubMed for southeast Asian ovalocytosis. Kisho has analyzed 1 by research type. Research spans Other (100%).

Recent Publications

Helmi MAM (2026). [PMID: 42136905](https://pubmed.ncbi.nlm.nih.gov/42136905/). *Mediterr J Hematol Infect Dis*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:166900

Orphanet

European rare disease database

Orphanet:98868

GARD

Genetic and Rare Diseases Info Center

GARD:16867

Questions for Your Care Team

→Should I pursue genetic testing for SLC4A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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southeast Asian ovalocytosis

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team