title: Prenatal diagnosis of alpha- and beta-thalassaemias in Singapore--current status.
abstract: Prenatal diagnosis was performed in 31 pregnancies where the fetuses were at risk for either homozygous alpha(0) - or beta-thalassaemia. First-trimester prenatal diagnosis by DNA analysis using chorionic villi was carried out for 17 pregnancies at risk for homozygous alpha (0)-thalassaemia. The alpha-globin genes in fetal DNA were detected by gene mapping using restriction endonuclease mapping and hybridization with cloned alpha-globin probe. Homozygous alpha (0)-thalassaemia was detected in four fetuses and the results were subsequently confirmed by electrophoresis of the cord blood where only Hb Barts was detected. Prenatal diagnosis for beta-thalassaemia was carried out by globin chain biosynthesis using fetal blood at 18-20 weeks' gestation. Using carboxymethyl (CM) sepharose chromatography, homozygous beta-thalassaemia was predicted in six pregnancies, and one fetus carried Hb E-beta thalassaemia. The seven pregnancies were terminated and globin chain analysis using cord blood confirmed the prenatal diagnoses. The remaining seven fetuses were diagnosed as either normal or beta-thalassaemia carriers. Using DNA analysis and globin chain biosynthesis for prenatal diagnosis of homozygous alpha(0)- and beta-thalassaemia, a 100% correlation was achieved with fetuses predicted to possess the homozygous condition.
authors.affiliation: Department of Paediatrics, National University of Singapore.
authors.forename: J A
authors.initials: JA
authors.lastname: Tan
authors.forename: S H
authors.initials: SH
authors.lastname: Tay
authors.forename: O K
authors.initials: OK
authors.lastname: Siang
authors.forename: P S
authors.initials: PS
authors.lastname: Lai
authors.forename: W H
authors.initials: WH
authors.lastname: Boon
authors.forename: S
authors.initials: S
authors.lastname: Kham
mesh_terms: D015193:Chorionic Villi Sampling; D005260:Female; D005914:Globins / Q000096:biosynthesis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015183:Restriction Mapping; D012846:Singapore; D013789:Thalassemia / Q000175:diagnosis*
chemical_list: D005914:Globins