Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction.
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.
Department of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur.
Y C
YC
Wee
K L
KL
Tan
P C
PC
Tan
S F
SF
Yap
J A M A
JA
Tan
D015193:Chorionic Villi Sampling; D003362:Cost-Benefit Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction / Q000191:economics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000191:economics / Q000379:methods*; D013577:Syndrome; D013997:Time Factors
D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's