title: High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.
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.
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Narazah Mohd
authors: NM
authors: Yusoff
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Hans
authors: H
authors: Van Rostenberghe
authors: Faculty of Health Science, Kobe University School of Medicine, Kobe, Japan.
authors: Taku
authors: T
authors: Shirakawa
authors: Faculty of Health Science, Kobe University School of Medicine, Kobe, Japan.
authors: Kaoru
authors: K
authors: Nishiyama
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Noryati
authors: N
authors: Amin
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Zainal
authors: Z
authors: Darus
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Nik
authors: N
authors: Zainal
authors: Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
authors: Nizam
authors: N
authors: Isa
authors: Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan.
authors: Hiroyuki
authors: H
authors: Nozu
authors: Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan. matsuo@kobe-u.ac.jp.
authors: Masafumi
authors: M
authors: Matsuo
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications / Q000235:genetics*; D000328:Adult; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004612:Elliptocytosis, Hereditary / Q000150:complications / Q000235:genetics*; D004912:Erythrocytes / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male; D008875:Middle Aged
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte