Southeast Asian ovalocytosis

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Southeast Asian ovalocytosis

ORPHA:98868Disease

Also called Hereditary ovalocytosis · Melanesian elliptocytosis · Melanesian ovalocytosis · SAO · Stomatocytic elliptocytosis

What it is

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.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

SLC4A1Disease-causing germline mutation(s)

ICD-10 codes

D58.1filed under a broader ICD-10 category — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

MONDO 0008165OMIM 166900UMLS C1862322

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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