Prenatal diagnosis of HB Bart's hydrops fetalis in West Malaysia

The identification of the alpha thal 1 defect by PCR based strategies

E. George, A. B. Mokhtar, Z. A. Azman, K. Hasnida, S. Saripah, C. M. Hwang

    Research output: Contribution to journalArticle

    Abstract

    Haemoglobin Bart's hydrops fetalis is the result of complete absence of functional α-globin genes where the fetus is homozygous for the α0-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 α-chain synthesis is confirmed by globin chain electrophoresis on cellulose acetate pH 6.0.

    Original languageEnglish
    Pages (from-to)501-504
    Number of pages4
    JournalSingapore Medical Journal
    Volume37
    Issue number5
    Publication statusPublished - Oct 1996

    Fingerprint

    Hydrops Fetalis
    Globins
    Malaysia
    Prenatal Diagnosis
    Fetal Blood
    Cellulose Acetate Electrophoresis
    Chorionic Villi
    Polymerase Chain Reaction
    DNA
    Genes
    Digestion
    Fetus
    Enzymes
    hemoglobin Bart's

    Keywords

    • Hb Bart's hydrops fetalis
    • PCR
    • West Malaysia

    ASJC Scopus subject areas

    • Medicine(all)

    Cite this

    George, E., Mokhtar, A. B., Azman, Z. A., Hasnida, K., Saripah, S., & Hwang, C. M. (1996). Prenatal diagnosis of HB Bart's hydrops fetalis in West Malaysia: The identification of the alpha thal 1 defect by PCR based strategies. Singapore Medical Journal, 37(5), 501-504.

    Prenatal diagnosis of HB Bart's hydrops fetalis in West Malaysia : The identification of the alpha thal 1 defect by PCR based strategies. / George, E.; Mokhtar, A. B.; Azman, Z. A.; Hasnida, K.; Saripah, S.; Hwang, C. M.

    In: Singapore Medical Journal, Vol. 37, No. 5, 10.1996, p. 501-504.

    Research output: Contribution to journalArticle

    George, E, Mokhtar, AB, Azman, ZA, Hasnida, K, Saripah, S & Hwang, CM 1996, 'Prenatal diagnosis of HB Bart's hydrops fetalis in West Malaysia: The identification of the alpha thal 1 defect by PCR based strategies', Singapore Medical Journal, vol. 37, no. 5, pp. 501-504.
    George, E. ; Mokhtar, A. B. ; Azman, Z. A. ; Hasnida, K. ; Saripah, S. ; Hwang, C. M. / Prenatal diagnosis of HB Bart's hydrops fetalis in West Malaysia : The identification of the alpha thal 1 defect by PCR based strategies. In: Singapore Medical Journal. 1996 ; Vol. 37, No. 5. pp. 501-504.
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