High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.
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.
Yusoff
Narazah Mohd
NM
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Van Rostenberghe
Hans
H
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Shirakawa
Taku
T
Faculty of Health Science, Kobe University School of Medicine, Kobe, Japan.
Nishiyama
Kaoru
K
Faculty of Health Science, Kobe University School of Medicine, Kobe, Japan.
Amin
Noryati
N
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Darus
Zainal
Z
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Zainal
Nik
N
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Isa
Nizam
N
Human Genome Center, School of Medical Science, Health Campus, University Sains Malaysia, Kelantan, Malaysia.
Nozu
Hiroyuki
H
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan.
Matsuo
Masafumi
M
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe 650-0017, Japan. matsuo@kobe-u.ac.jp.
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
D001457:Anion Exchange Protein 1, Erythrocyte