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Blood, Vol. 95 No. 1 (January 1), 2000: pp. 360-362

BRIEF REPORT


Single-tube multiplex-PCR screen for common deletional determinants of alpha -thalassemia

Samuel S. Chong, Corinne D. Boehm, Douglas R. Higgs, and Garry R. Cutting

From the McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland; the Departments of Pediatrics and Obstetrics & Gynecology, National University of Singapore, Singapore; and the MRC Molecular Hematology Unit, Institute of Molecular Medicine, Oxford, England.

alpha -Thalassemia is very common throughout all tropical and subtropical regions of the world. In Southeast Asia and the Mediterranean regions, compound heterozygotes and homozygotes may have anemia that is mild to severe (hemoglobin [Hb] H disease) or lethal (Hb Bart's hydrops fetalis). We have developed a reliable, single-tube multiplex-polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of alpha -thalassemia. The assay allows simple, high throughput genetic screening for these common hematological disorders. (Blood. 2000;95:360-362)


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