KEGG   DISEASE: Southeast Asian ovalocytosisHelp
H01720                      Disease                                

Southeast Asian ovalocytosis
Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic, with prevalence varying between 5% and 25%. SAO is now known to be caused by a 27 base-pair deletion in SLC4A1, which codes for band 3, a 911 amino acid protein that is both a structural component of the red cell membrane cytoskeleton and the chloride-bicarbonate anion-exchanger in this membrane. SAO is believed to have evolved because these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped red blood cells with increased membrane rigidity and decreased anion transport, but no clinical symptoms beyond sporadic associations with anemia in both adults and neonates. The diagnosis is made accidentally as a result of a peripheral blood smear examination, showing the characteristic rounded elliptocytes (ovalocytes).
Hematologic disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01720  Southeast Asian ovalocytosis
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H01720  Southeast Asian ovalocytosis
BRITE hierarchy
SLC4A1 [HSA:6521] [KO:K06573]
See also H00361 Malaria.
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.1
OMIM: 166900
Andolfo I, Russo R, Gambale A, Iolascon A
New insights on hereditary erythrocyte membrane defects.
Haematologica 101:1284-1294 (2016)
Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
Kidney Int 62:10-9 (2002)
Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, Thompson MK, Yusoff NM, Wilder JA
The evolutionary origins of Southeast Asian Ovalocytosis.
Infect Genet Evol 34:153-9 (2015)
Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
Proc Natl Acad Sci U S A 88:11022-6 (1991)

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