Simultaneous PCR detection of beta - thalassemia and alpha - thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome.
OBJECTIVE
To establish a rapid PCR method for simultaneous detection of beta-thalassemia and alpha-thalassemia 1 genes for diagnosis of complex alphabeta-thalassemia syndrome.


METHODS
Using multiplex allele specific PCR approach, we evaluated a simultaneous detection of the SEA type alpha-thalassemia 1 and the common Southeast Asian beta-thalassemia and hemoglobin E genes. The system was tested on known cases of double heterozygote for alpha- and beta-thalassemias and in a prenatal diagnosis of complex alphabeta-thalassemia syndrome.


RESULTS
Co-inheritance of alpha-thalassemia 1 (SEA type) with each of the common beta-thalassemia genes in Southeast Asian and with hemoglobin E could be identified in a single PCR reaction. A successful application of this simultaneous detection system in prenatal diagnosis of a complex thalassemia syndrome caused by an EFBart's disease was demonstrated in a Thai family.


CONCLUSIONS
We have shown that correct diagnosis of double heterozygosity for alpha-thalassemia 1 and beta-thalassemia or hemoglobin E could be obtained using a simultaneous multiplex PCR. These rapid PCR assays would facilitate characterization and prenatal diagnosis of complex thalassemia syndromes in the regions where both alpha- and beta-thalassemias and hemoglobin E are common.
Siriratmanawong
N
N
Department of Clinical Chemistry, Khon Kaen University, 40002, Khon Kaen, Thailand.
Fucharoen
G
G
Sanchaisuriya
K
K
Ratanasiri
T
T
Fucharoen
S
S
D015193:Chorionic Villi Sampling; D004587:Electrophoresis, Agar Gel; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005914:Globins / Q000235:genetics; D006446:Hemoglobin E / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010334:Paternity; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000235:genetics; D011296:Prenatal Diagnosis; D012016:Reference Values; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins; D006446:Hemoglobin E