Prenatal Diagnosis of β-Thalassemia Using Multiplex Allele-Specific Amplification (MASPCR) in Chinese Families

Combining allele-specific amplification (ASPCR) with multiplex PCR, we developed a new approach-multiplex allele-specific amplification (MASPCR) to detect five common types of β-thalassemia mutations (CD 41-42(-4bp), CD 17 A→T, CD 71-72 (+ A), -28 A→ G and IVS-2-654 C→ T) which account for approximately 80% of all β-thalassemia alleles in Chinese individuals. Using this technique, prenatal diagnoses were performed for ten pregnancies at risk for β-thalassemia. All the results were confirmed by PCR/ASO probe hybridization or DNA sequencing. This study suggests that this method is a simple, accurate approach that may further improve the prevention programs for β-thalassemia that have already dramatically lowered the birth rate of affected children in some parts of the world.