Document Type

Article (Restricted)

Publication Date

1-1-2005

Abstract

Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction.

Keywords

Antenatal diagnosis, Haemoglobin Bart's hydrops foetalis syndrome, Southeast Asian deletion, DNA amplification, Duplex-PCR

Publication Title

Medical Journal of Malaysia

ISSN

0300-5283

Divisions

fac_med

Volume

60

Issue

4

Publisher

Malaysian Medical Association

Additional Information

DH

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