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GTR Home > Conditions/Phenotypes > Southeast Asian ovalocytosis

Southeast Asian ovalocytosis

Synonyms
Elliptocytosis 4; HE, STOMATOCYTIC; Ovalocytosis, Malaysian-Melanesian-Filipino type; Stomatocytic elliptocytosis, hereditary
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Southeast Asian ovalocytosis is a hereditary red blood cell disorder that is widespread in certain ethnic groups of Malaysia, Papua New Guinea, the Philippines, and Indonesia. Ovalocytic erythrocytes are rigid and exhibit reduced expression of many erythrocyte antigens. The ovalocytes are resistant to invasion in vitro by several strains of malaria, including Plasmodium falciparum and Plasmodium knowlesi (summary by Jarolim et al., 1991). The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones (summary by Reardon et al., 1993). [from OMIM]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR, SLC4A1
    Summary: solute carrier family 4 member 1 (Diego blood group)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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