Ovalocytosis, Southeast Asian

Alternative Names

  • SAO
  • Ovalocytosis, Malaysian-Melanesian-Filipino Type
  • Elliptocytosis 4
  • EL4
  • Elliptocytosis, Stomatocytic Hereditary
  • HE, Stomatocytic
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

OMIM Number

166900

Gene Map Locus

17q21.31

Description

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. The disorder is most often asymptomatic but has been reported to be associated with signs of mild hemolysis such as intermittent jaundice and gallstones. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
166900.1ComorosMale Elliptocytosis; Retinal stroke... NM_000342.4:c.1199_1225delHeterozygousAutosomal, DominantFavale F, Gardembas ...
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