High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis

J Hum Genet. 2003;48(12):650-653. doi: 10.1007/s10038-003-0095-2. Epub 2003 Nov 15.


Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis, Renal Tubular / complications
  • Acidosis, Renal Tubular / genetics*
  • Adult
  • Anion Exchange Protein 1, Erythrocyte / genetics*
  • Child
  • Child, Preschool
  • Elliptocytosis, Hereditary / complications
  • Elliptocytosis, Hereditary / genetics*
  • Erythrocytes / pathology
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Malaysia
  • Male
  • Middle Aged


  • Anion Exchange Protein 1, Erythrocyte