title: A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)).
abstract: Alpha-thalassemia is an inherited hemoglobin disorder characterized by a microcytic hypochromic anemia caused by a quantitative reduction of the alpha-globin chain. The majority of the alpha-thalassemias is caused by deletions in the alpha-globin gene cluster. A deletion in the alpha-globin gene cluster, which was found in a Dutch family, was characterized by MLPA, long-range PCR and direct sequencing. We describe the molecular characterization of a novel 8.2kb deletion (--(AW)), involving both alpha-globin genes in cis. The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence. This deletion is the third example of a non-homologous recombination event involving an Alu and an L1 repeat, and the first described in the human alpha-globin gene cluster. Because of a 25% risk of Hb Bart's with hydrops foetalis in the offspring when in combination with another alpha(0)-thalassemia allele, it is important to diagnose this deletion.
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands. m.phylipsen@lumc.nl
authors.forename: Marion
authors.initials: M
authors.lastname: Phylipsen
authors.forename: Ingrid P
authors.initials: IP
authors.lastname: Vogelaar
authors.forename: Rianne A C
authors.initials: RA
authors.lastname: Schaap
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: George L
authors.initials: GL
authors.lastname: Boxma
authors.forename: Willem C H
authors.initials: WC
authors.lastname: van Helden
authors.forename: Irene C M
authors.initials: IC
authors.lastname: Wildschut
authors.forename: Andrea C
authors.initials: AC
authors.lastname: de Bruin-Roest
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D017384:Sequence Deletion / Q000235:genetics*; D055542:alpha-Globins / Q000172:deficiency* / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055542:alpha-Globins