southeast Asian ovalocytosis
Findings
No curated finding names southeast Asian ovalocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008165), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anemic pallorHPOHP:0001017
- Frequent (30% to 79% of cases)
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- Frequent (30% to 79% of cases)
- ElliptocytosisHPOHP:0004445
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Hemolytic anemiaHPOHP:0001878
- Frequent (30% to 79% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- PolychromasiaHPOHP:0034609
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- StomatocytosisHPOHP:0004446
- Frequent (30% to 79% of cases)
Show the remaining 4
- Unconjugated hyperbilirubinemiaHPOHP:0008282
- Frequent (30% to 79% of cases)
- Increased mean corpuscular volumeHPOHP:0005518
- Occasional (5% to 29% of cases)
- Renal tubular acidosisHPOHP:0001947
- Occasional (5% to 29% of cases)
- SpherocytosisHPOHP:0004444
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC4A1HGNC:11027
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: southeast Asian ovalocytosis
- Also called
- Melanesian elliptocytosisMelanesian ovalocytosisovalocytosis, SA typeSAOstomatocytic elliptocytosis