文献_Diagnosis ofα-Thalassemias by Determining the Ratio.pdf

Technical Briefs Diagnosis of -Thalassemias by Determining the Ra- perinatal period, when transient expression of hemoglo- tio of the Two -Globin Gene Copies by Oligonucleo- bin (Hb) Barts may be found (4). Diagnostic assays are tide Hybridization and Melting Curve Analysis, Chris- also important for genetic counseling because, when 1* 1 2 0 tian Timmann, Florian Moenkemeyer, Jennifer A. Evans, occurring in compound heterozygosity with -thalasse- Birgit Foerster,1 Egbert Tannich,1 Sylvia Haase,1 Juergen mia, -thalassemia causes Hb H disease with a thalas- Sievertsen,1 Elisabeth Kohne,3 and Rolf D. Horstmann1 (1 De- semia intermedia phenotype (5). partment of Molecular Medicine, Bernhard Nocht Insti- The classic method to diagnose -thalassemias is the tute for Tropical Medicine, Hamburg, Germany, and laborious and expensive Southern blot hybridization. Al- Institute of Medical Biometry and Statistics, University ternative assays include qualitative gap-PCRs (3, 6), Hospital Schleswig-Holstein—Campus Lu¨ beck, Lu¨ beck, which depend on the generation of long PCR products, Germany; 2 Kumasi Centre for Collaborative Research, which is not consistently reproducible (3) in the GC-rich Kwame Nkrumah University of Science and Technology, sequences of the -globin gene