title: Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.
abstract: Despite the fact that mutations in the human beta-globin gene cluster are essentially point mutations, a significant number of large deletions have also been described. We present here four new large deletions in the beta-globin gene cluster that have been identified on patients displaying an atypical hemoglobin phenotype (high HbF) at routine analysis. The first deletion, which spreads over 2.0 kb, removes the entire beta-globin gene, including its promoter, and is associated with a typical beta-thal minor phenotype. The three other deletions are larger (19.7 to 23.9 kb) and remove both the delta and beta-globin genes. Phenotypically, they look like an HPFH-deletion as they are associated with normal hematological parameters. The precise localization of their 5' and 3' breakpoints gives new insights about the differences between HPFH and (deltabeta)(0)-thalassemia at the molecular level. The importance of detection of these deletions in prenatal diagnosis and newborn screening of hemoglobinopathies is also discussed.
authors.affiliation: Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard-Herriot (HCL), Lyon, France. philippe.joly@chu-lyon.fr
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Philippe
authors.initials: P
authors.lastname: Lacan
authors.forename: Caroline
authors.initials: C
authors.lastname: Garcia
authors.forename: Nicole
authors.initials: N
authors.lastname: Couprie
authors.forename: Alain
authors.initials: A
authors.lastname: Francina
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D005810:Multigene Family; D010641:Phenotype; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult; D055544:beta-Globins / Q000032:analysis / Q000235:genetics*
chemical_list: D055544:beta-Globins; D005319:Fetal Hemoglobin