title: Prenatal diagnosis of Hb Bart's hydrops fetalis in West Malaysia: the identification of the alpha thal 1 defect by PCR based strategies.
abstract: Haemoglobin Bart's hydrops fetalis is the result of complete absence of functional alpha-globin genes where the fetus is homozygous for the alpha 0-thal gene. Prenatal diagnosis can be made by analysis of fetal DNA from chorionic villus, amniotic cells and fetal blood. Earlier studies for analysing genomic DNA needed digestion with restriction enzymes and hybridisation to radiolabelled probes which took 2 weeks. We have used the polymerase chain reaction (PCR) and non-radioactive primers to identify specific target sequences with results available within 1-3 days for the diagnosis of haemoglobin Bart's syndrome. With fetal blood samples, complete absence of alpha-chain synthesis is confirmed by globin chain electrophoresis on cellulose acetate pH 6.0.
authors.affiliation: Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
authors.forename: E
authors.initials: E
authors.lastname: George
authors.forename: A B
authors.initials: AB
authors.lastname: Mokhtar
authors.forename: Z A
authors.initials: ZA
authors.lastname: Azman
authors.forename: K
authors.initials: K
authors.lastname: Hasnida
authors.forename: S
authors.initials: S
authors.lastname: Saripah
authors.forename: C M
authors.initials: CM
authors.lastname: Hwang
mesh_terms: D001483:Base Sequence; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000276:immunology; D008296:Malaysia; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000276:immunology