title: Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin.
abstract: We studied the molecular bases of beta-thalassemia in Rome, a city centrally located in Latium, which is a region with a low incidence of beta-carriers. People also come to Rome from other regions for specific or prenatal diagnostic assessment. Only 11 patients (20%) out of 62 characterized beta-thalassemia subjects were of Latium family origin. They presented five mutations with an uncommonly high frequency of the IVSII-745 allele, that was found in homozygosis in 4 unrelated patients from a southeastern area in the province of Frosinone. These data may indicate a founder effect.
authors.affiliation: Hematology-Oncology Laboratory, Istituto Superiore di Sanità, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Massa
authors.forename: P
authors.initials: P
authors.lastname: Cianciulli
authors.forename: L
authors.initials: L
authors.lastname: Cianetti
authors.forename: R
authors.initials: R
authors.lastname: Iazzone
authors.forename: A
authors.initials: A
authors.lastname: Cenci
authors.forename: F
authors.initials: F
authors.lastname: Sorrentino
authors.forename: G
authors.initials: G
authors.lastname: Franco
authors.forename: G
authors.initials: G
authors.lastname: Pecci
authors.forename: G
authors.initials: G
authors.lastname: Papa
authors.forename: C
authors.initials: C
authors.lastname: Peschle
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D006801:Humans; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D012384:Rome / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*