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

Yusoff NM 1 , Van Rostenberghe H 1 , Shirakawa T 2 , Nishiyama K 2 , Amin N 1 , Darus Z 1 Show all authors , Zainal N 1 , Isa N 1 , Nozu H 3 , Matsuo M 4

Affiliations 

  • 1 Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia
  • 2 Faculty of Health Science, Kobe University School of Medicine, Kobe, Japan
  • 3 Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan
  • 4 Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan. matsuo@kobe-u.ac.jp
J Hum Genet, 2003;48(12):650-653.
PMID: 14618420 DOI: 10.1007/s10038-003-0095-2

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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