文献_Development of a quantitative real-time PCR assay for detection of unknown α-globin gene deletions.pdf

Blood Cells, Molecules, and Diseases 45 (2010) 58–64 Contents lists available at ScienceDirect Blood Cells, Molecules, and Diseases journal home page: www. elsevier. com/ locate/ ybcmd Development of a quantitative real-time PCR assay for detection of unknown α-globin gene deletions Mohammad-Sadegh Fallah a,c, Reza Mahdian b, Seyyed-Ahmad Aleyasin a, Somayeh Jamali b, Mina Hayat-Nosaeid b, Moretza Karimipour b, Marzieh Raeisi c, Sirous Zeinali b,c,⁎ a National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran b Department of Molecular Medicine, Biotech Research Center, Pasteur Institute of Iran, Tehran, Iran c Kawsar Human Genetics Research Center, Tehran, Iran a r t i c l e i n f o a b s t r a c t Article history: Background : Alpha-Thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in Submitted 31 December 2009 the world. Unlike beta-thalassemia, in which non-deletional mutations predominate, most of recognized Revised 19 February 2010 α-thalassemia mutations include deletion of one or both α-globin genes. The importance of α-thalassemia Available online 2 April 2010 detection is mainly due to its shared blood parameters with beta-thalassemia and its impact on discrimination between unknown α-thalassemia and normal HbA2 beta-thalassemia during thalassemia prevention program. (Communicated by Sir D. Weatherall, F.R.S., Materials and methods : Cases with hematologic profile of low MCV, MCH, and normal HbA2 were enrolled in th