title: Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy.
abstract: Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.
authors.affiliation: UOS, Diagnosi delle Talassemie, UOC di Microcitemia, Azienda Ospedaliera di Rilievo Nazionale A. Cardarelli, Napoli, Italy. ildepagano@libero.it
authors.forename: Leonilde
authors.initials: L
authors.lastname: Pagano
authors.forename: Assunta
authors.initials: A
authors.lastname: Viola
authors.forename: Gennaro
authors.initials: G
authors.lastname: Fioretti
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Ammirabile
authors.forename: Paolo
authors.initials: P
authors.lastname: Ricchi
authors.forename: Luciano
authors.initials: L
authors.lastname: Prossomariti
mesh_terms: D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D008403:Mass Screening; D017354:Point Mutation; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C065670:hemoglobin Dhonburi