title: Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification.
abstract: OBJECTIVE
  Hemophilia A is an X-linked bleeding disorder caused by mutations widespread in the human coagulation F8 gene. Apart from common intrachromosomal translocations, most of the mutations in the F8 gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene can go undetected, especially in heterozygous females.
  
  
  RESULTS
  The multiplex ligation-dependent probe amplification is an efficient tool, new and fast, for discovering these rearrangements. In this study different deletions, which were detected using multiplex ligation-dependent probe amplification assay on 25 patients affected by severe hemophilia A, were classified as "mutation negative" by sequencing analysis.
  
  
  CONCLUSIONS
  These data suggest that this screening could be systematically included in genetic screening of patients with Hemophilia A.
authors.affiliation: Dipartimento di Scienze Biomediche, Genetica Medica, Università degli Studi di Foggia, Foggia, Italy. r.santacroce@unifg.it
authors.forename: Rosa
authors.initials: R
authors.lastname: Santacroce
authors.forename: Vittoria
authors.initials: V
authors.lastname: Longo
authors.forename: Valeria
authors.initials: V
authors.lastname: Bafunno
authors.forename: Francesco
authors.initials: F
authors.lastname: Sessa
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Chetta
authors.forename: Michelina
authors.initials: M
authors.lastname: Sarno
authors.forename: Nenad
authors.initials: N
authors.lastname: Bukvic
authors.forename: Giovanna
authors.initials: G
authors.lastname: D'Andrea
authors.forename: Michela
authors.initials: M
authors.lastname: Tomaiuolo
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007558:Italy; D022521:Ligase Chain Reaction