Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification

• Published in: Genetic testing and molecular biomarkers Vol. 13; no. 5; p. 573
• Main Authors: Santacroce, Rosa, Longo, Vittoria, Bafunno, Valeria, Sessa, Francesco, Chetta, Massimiliano, Sarno, Michelina, Bukvic, Nenad, D'Andrea, Giovanna, Tomaiuolo, Michela, Margaglione, Maurizio
• Format: Journal Article
• Language: English
• Published: United States 01.10.2009
• Subjects: Female; Gene Deletion; Genetic Carrier Screening; Hemophilia A - genetics; Humans; Italy; Ligase Chain Reaction
• ISSN: 1945-0257
• DOI: 10.1089/gtmb.2009.0015

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. 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. These data suggest that this screening could be systematically included in genetic screening of patients with Hemophilia A.