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

Abstract

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) and F9 large deletions 6-13% of severe HB (www.factorix.org/). 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.