Detection of a novel large deletion causing α-thalassemia in South China

• A novel large deletional type of α-thalassemia was identified.
• MLPA was used for diagnosing a carrier and prenatal diagnosing for a fetus.
• Real-time PCR was employed for characterizing the deletion breakpoints.
• Carriers in the family were detected by real-time PCR with designed primers.

α-Thalassemia is an inherited autosomal recessive disorder. It is one of the most common monogenic abnormalities known in the world and is prevalent in tropical and subtropical regions. α-Thalassemia is more frequently caused by deletional type than non-deletional type. Recently, we identified a novel large deletional type of α-thalassemia named --FZ/αα from a family in South China. Multiplex ligation-dependent probe amplification was used for diagnosing the carrier and prenatal diagnosing for a fetus. Real-time PCR was employed for characterizing the deletion breakpoints and the deletional segment was determined as 300 kb in length extending from the telomere to AXIN1 gene on the short arm of chromosome 16. The carriers in the family members were detected by real-time PCR using designed primers.