Abstract
Molecular analysis of two fetuses at high risk of α-thalassemia (α-thal), and their family members, was performed using real-time polymerase chain reaction (PCR) with SYBR Green 1 (SYBR-PCR) dye combined with dissociation curve analysis and multiplex PCR (m-PCR) and DNA sequencing techniques. The genotype of the fetus from one family was – –SEA/– –SEA (Southeast Asian deletion), which produces hydrops fetalis syndrome. The genotype of the parents was – –SEA/αα. A boy with Hb H disease and his sibling fetus from the other family had the genotype – –SEA/αCSα [the Hb Constant Spring (CS) mutation: α142, Term→Gln (TAA>CAA in α2)] and αα/αα (normal), respectively. The diagnosis, based on SYBR-PCR combined with dissociation curve analysis, was in agreement with the results from the m-PCR method. This indicates that these are alternative and reliable assays for the molecular diagnosis of deletional α-thal.
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