title: Phenotypic variability of Filipino beta(o)-thalassemia/HbE patients in Indonesia.
abstract: Three Indonesian patients with identical genotypes, each compound heterozygotes for Filipino beta(o)-thalassemia/HbE, expressed different clinical severities. One patient has mild disease and is transfusion independent, while the other two are severely affected and transfusion dependent. The size of the Filipino beta(o)-globin gene deletion was confirmed to be 45 kb, resolving conflicting values given in the literature. Neither ameliorating genetic factors such as alpha-globin gene deletions or the XmnI restriction site polymorphism at position -158 upstream of the (G)gamma-globin gene, nor differences in beta-globin gene haplotype, explain the phenotypic variation. These observations have implications for the development of antenatal diagnosis in Indonesia, as at present it is not possible to give an accurate prediction of severity of phenotype for this common genotype.
authors.affiliation: The Murdoch Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Australia. ning@eijkman.go.id
authors.forename: I
authors.initials: I
authors.lastname: Setianingsih
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: D
authors.initials: D
authors.lastname: Daud
authors.forename: A
authors.initials: A
authors.lastname: Harahap
authors.forename: S
authors.initials: S
authors.lastname: Marzuki
authors.forename: S
authors.initials: S
authors.lastname: Forrest
mesh_terms: D002648:Child; D015252:Deoxyribonucleases, Type II Site-Specific; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006456:Hemoglobinuria / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007214:Indonesia; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010679:Philippines / Q000208:ethnology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000150:complications / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins; D006446:Hemoglobin E; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific