KEGG   DISEASE: Southeast Asian ovalocytosisHelp
Entry
H01720                      Disease                                

Name
Southeast Asian ovalocytosis
Description
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).
Category
Hematologic disease
Brite
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
Gene
SLC4A1 [HSA:6521] [KO:K06573]
Comment
See also H00361 Malaria.
Other DBs
ICD-11: 3A10.Y
ICD-10: D58.1
OMIM: 166900
Reference
  Authors
Andolfo I, Russo R, Gambale A, Iolascon A
  Title
New insights on hereditary erythrocyte membrane defects.
  Journal
Haematologica 101:1284-1294 (2016)
DOI:10.3324/haematol.2016.142463
Reference
  Authors
Wrong O, Bruce LJ, Unwin RJ, Toye AM, Tanner MJ
  Title
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
  Journal
Kidney Int 62:10-9 (2002)
DOI:10.1046/j.1523-1755.2002.00417.x
Reference
  Authors
Paquette AM, Harahap A, Laosombat V, Patnode JM, Satyagraha A, Sudoyo H, Thompson MK, Yusoff NM, Wilder JA
  Title
The evolutionary origins of Southeast Asian Ovalocytosis.
  Journal
Infect Genet Evol 34:153-9 (2015)
DOI:10.1016/j.meegid.2015.06.002
Reference
PMID:1722314
  Authors
Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC
  Title
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
  Journal
Proc Natl Acad Sci U S A 88:11022-6 (1991)
DOI:10.1073/pnas.88.24.11022

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