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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)

Type

Journal article

Journal

Blood

Publication Date

01/2000

Volume

95

Pages

360 - 362

Addresses

McKusick-Nathans Institute of Genetic Medicine and Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Keywords

Humans, alpha-Thalassemia, Globins, DNA, DNA Primers, Genetic Screening, Polymerase Chain Reaction, Sequence Deletion, Base Sequence, Heterozygote, Homozygote, Multigene Family