title: Natural history of Southeast Asian Ovalocytosis during the first 3 years of life.
abstract: Southeast Asian Ovalocytosis (SAO), the most common red cell membrane disorder found in the Far-East and Pacific rim, appears to be innocuous in man since it has been identified mostly in non-anemic healthy individuals. To further substantiate our previous observation that this condition might be symptomatic particularly in the neonatal period, we studied 1567 newborns from Southern Thailand where SAO is prevalent. Thirty-one babies (1: 50 with allele frequency of 0.01) have been identified with SAO and confirmed molecularly to carry a single defective AE-1 (band 3) allele. These babies had significant anemia at birth due to hemolysis with 51.6% of them developing neonatal hyperbilirubinemia. Co-inheritance of common UGT1A1 variants in such cases was not associated with their degree of jaundice. Interestingly, hematology data of these SAO babies became "normalized" in the first 3 years of life without further evidence of on-going and/or even "compensated" hemolysis.
authors.affiliation: Division of Pediatric Hematology & Oncology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkla 90110, Thailand. vichai.l@psu.ac.th
authors.forename: Vichai
authors.initials: V
authors.lastname: Laosombat
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
authors.forename: Supaporn
authors.initials: S
authors.lastname: Dissaneevate
authors.forename: Roengsak
authors.initials: R
authors.lastname: Leetanaporn
authors.forename: Thirachit
authors.initials: T
authors.lastname: Chotsampancharoen
authors.forename: Malai
authors.initials: M
authors.lastname: Wongchanchailert
authors.forename: Sudarat
authors.initials: S
authors.lastname: Kodchawan
authors.forename: Warangkana
authors.initials: W
authors.lastname: Thongnoppakun
authors.forename: Sarapee
authors.initials: S
authors.lastname: Duangchu
mesh_terms: D000483:Alleles; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D004612:Elliptocytosis, Hereditary / Q000150:complications / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014453:Glucuronosyltransferase / Q000235:genetics; D006461:Hemolysis; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011446:Prospective Studies; D013785:Thailand; D000099148:UGT1A1 Enzyme
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme