title: Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.
abstract: The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected. Seventy five percent of the patients were Chinese-Malaysians and showed the commonly occurring anomalies: 1. frameshift codon 41 and 42 (-TCTT); 2. the C to T substitution at position 654 of intron 2 (IVS-2); 3. the mutation at position -28(A to G); and the nonsense mutation A to T at codon 17. In the Malays, the common mutations seen were: 1. the G to C mutation at position 5 of IVS-1; 2. the G to T mutation at position 1 of intron 1 (IVS-1); and the A to T at codon 17. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta-thalassaemia to be instituted.
authors.affiliation: Department of Pathology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Raja Muda Abdul Aziz, Kuala Lumpur.
authors.forename: E
authors.initials: E
authors.lastname: George
authors.forename: R
authors.initials: R
authors.lastname: George
authors.forename: W A
authors.initials: WA
authors.lastname: Ariffin
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: Sivagengei
mesh_terms: D001483:Base Sequence; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*