Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR

ABELLEYRO M.M.; RADIC C.P.; TETZLAFF T.; MARCHIONE V.D.; FUNDIA A.F.; LARRIPA I.B.; ROSSETTI L.C.; DE BRASI C.D.

HAEMOPHILIA

WILEY-BLACKWELL PUBLISHING, INC

Lugar: Osney Mead, Oxford, UK; Año: 2015 vol. 21 p. 247 - 251

1351-8216

Haemophilia A (HA) (OMIM#306700) and haemophilia B (HB) (OMIM#306900) are X-linked disorders characterized by deleterious mutations in coagulation factor VIII (F8) and factor IX (F9) genes respectively. Among these mutations, F8 large deletions cause 8?15% of severe HA (www.factorviii-db.org) [1] and F9 large deletions 6?13% of severe HB (www.factorix.org/) [2]. Molecular diagnosis of F8 or F9 large deletions (F8/F9-LDs) is critically important because these mutations associate with a highly significant predisposition to develop inhibitors against exogenous FVIII or FIX, the most troublesome complication for haemophilia treatment [3].