Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients

practical implications in prenatal diagnosis.

E. George, R. George, W. A. Ariffin, A. B. Mokhtar, Z. A. Azman, K. Sivagengei

    Research output: Contribution to journalArticle

    7 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)325-329
    Number of pages5
    JournalMedical Journal of Malaysia
    Volume48
    Issue number3
    Publication statusPublished - Sep 1993

    Fingerprint

    Thalassemia
    beta-Thalassemia
    Prenatal Diagnosis
    Mutation
    Codon
    Introns
    Nonsense Codon
    Polymerase Chain Reaction

    ASJC Scopus subject areas

    • Medicine(all)

    Cite this

    George, E., George, R., Ariffin, W. A., Mokhtar, A. B., Azman, Z. A., & Sivagengei, K. (1993). Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis. Medical Journal of Malaysia, 48(3), 325-329.

    Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients : practical implications in prenatal diagnosis. / George, E.; George, R.; Ariffin, W. A.; Mokhtar, A. B.; Azman, Z. A.; Sivagengei, K.

    In: Medical Journal of Malaysia, Vol. 48, No. 3, 09.1993, p. 325-329.

    Research output: Contribution to journalArticle

    George, E, George, R, Ariffin, WA, Mokhtar, AB, Azman, ZA & Sivagengei, K 1993, 'Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.', Medical Journal of Malaysia, vol. 48, no. 3, pp. 325-329.
    George, E. ; George, R. ; Ariffin, W. A. ; Mokhtar, A. B. ; Azman, Z. A. ; Sivagengei, K. / Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients : practical implications in prenatal diagnosis. In: Medical Journal of Malaysia. 1993 ; Vol. 48, No. 3. pp. 325-329.
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    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.",
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