Rapid detection of the common mediterranean α-globin deletions/rearrangements using PCR

American Journal of HematologyVolume 58, Issue 4 p. 306-310 TechniqueFree Access Rapid detection of the common mediterranean α-globin deletions/rearrangements using PCR Varda Oron-Karni, Varda Oron-Karni Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, IsraelSearch for more papers by this authorDvora Filon, Dvora Filon Hadassah University Hospital, Jerusalem, IsraelSearch for more papers by this authorAriella Oppenheim, Ariella Oppenheim Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, IsraelSearch for more papers by this authorDeborah Rund, Corresponding Author Deborah Rund Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, Israel Hadassah University Hospital, Jerusalem, IsraelHematology Department, Hadassah University Hospital, Ein Kerem, Jerusalem, Israel IL91120Search for more papers by this author Varda Oron-Karni, Varda Oron-Karni Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, IsraelSearch for more papers by this authorDvora Filon, Dvora Filon Hadassah University Hospital, Jerusalem, IsraelSearch for more papers by this authorAriella Oppenheim, Ariella Oppenheim Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, IsraelSearch for more papers by this authorDeborah Rund, Corresponding Author Deborah Rund Hematology Department, Hebrew University-Hadassah Medical School, Jerusalem, Israel Hadassah University Hospital, Jerusalem, IsraelHematology Department, Hadassah University Hospital, Ein Kerem, Jerusalem, Israel IL91120Search for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8652(199808)58:4<306::AID-AJH10>3.0.CO;2-5Citations: 39AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract The most frequent molecular lesions causing α-thalassemia are deletions of one or more α-globin genes. Detection of these deletions generally requires genomic Southern analysis, which is cumbersome and time consuming. We have designed new sets of primers for PCR identification of the common Mediterranean α-globin gene rearrangements, including the -α3.7 deletion and the αααanti3.7 triplication, the -α4.2 deletion, and the --Med allele. We have established reaction conditions that provide easily interpretable, unambiguous diagnoses. Some of the PCR reactions are multiplex, simultaneously identifying several genotypes, thus reducing the time and cost of screening and prenatal testing. The use of these methods should facilitate carrier screening and identification of couples at risk for α-thalassemia. Am. J. Hematol. 58:306–310, 1998. © 1998 Wiley-Liss, Inc. 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