Rapid identification of the copy number of α-globin genes by capillary electrophoresis analysis

ObjectivesThe current study aimed at the rapid identification of the copy number of α-globin genes for the diagnosis of α-thalassemia.Design and methodsTo identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with the CE analysis.ResultsThe proposed method provides a rapid detection of the common α-globin gene deletions. Sixty-six patients with α-thalassemia and 46 normal controls were included in the present study. The obtained results showed good correlation with those obtained by gap PCR. Moreover, a low amount of maternal cell contamination in the fetus specimen for the prenatal diagnosis of hemoglobin Barts hydrops fetalis as well as the rare multiplicated α-globin genes can be identified using this method.ConclusionThis method provides a convenient and efficient tool for the rapid identification of the copy number of α-globin genes in α-thalassemia and the individuals with α-globin gene multiplication.

► Alpha thalassemia is the most common autosomal recessive disorders.
► The majority of the genetic defects are deletions.
► Capillary electrophoresis analysis a modern tool for DNA fragment separation.
► We use CE as a tool for rapid identification of the copy number of alpha-globin genes.