Informing Treatment Decisions with 8CHECK Gene Mutation Testing Service
Factor 8 Gene Mutation Analysis for Your Hemophilia A Patients
Factor 8 (F8) gene mutations cause hemophilia A, and their type may impact the risk of inhibitor development, one of the most serious complications of disease management.1 Knowing the specific F8 gene mutation and its respective category, null or non-null, could help you predict whether an individual with hemophilia A is at high or low risk of developing inhibitors.
This important information can help you choose an appropriate treatment for each individual with hemophilia A, while reducing the risk of inhibitor development in those starting prophylaxis, switching treatment or undergoing a surgical procedure. That’s why Octapharma is providing the 8CHECK service to you and your patients at no cost.
What Is 8CHECK?
8CHECK is a public health service sponsored by Octapharma in the interest of supporting the hemophilia A community. Octapharma is offering this free service to all hemophilia A patients who have not had previous F8 gene mutation analysis. Patients do not need to be currently on an Octapharma product, and there is no obligation to take one in order to participate.
Octapharma’s role is to:
- Provide you with supporting information on sample preparation and 8CHECK documentation
- Coordinate the shipment of the sample to the laboratory (Bloodworks Hemostasis Genomics at Eastlake in Seattle, WA)
- Cover all costs associated with the shipment and analysis
The gene analysis and resulting report are handled by Bloodworks, under the supervision of Professor Barbara Konkle.
The Benefit of 8CHECK: Help Reduce Risk of Inhibitor Development
There are several non-modifiable risk factors associated with inhibitor development: type of F8 mutation, age, disease severity, or family history of inhibitors.1 Fortunately, we can intervene in other modifiable risk factors, including recommended treatment intensity, type of treatment (prophylaxis or on-demand) and the type of F8 replacement product prescribed (plasma-, hamster-, or human-derived).1
The impact of F8 product type on inhibitor development risk also varies—depending on the type of F8 mutation: null or non-null:
- Null mutations: not capable of producing any F8 protein
- Non-null mutations: still capable of producing F8, but quality and/or quantity is defective
Null mutations are associated with a more severe disease phenotype and with a higher risk of inhibitor development.2
Two recent studies, the SIPPET study and the NuProtect study look at the impact of F8 product type on inhibitor development in previously untreated patients (PUPs). Find more information about the safety and efficacy of NUWIQ in the treatment of hemophilia A with PUPs.
Getting Started with 8CHECK
It’s easy. Get the process started by contacting us in one of two ways:
- Send an email to eightcheckUSA@octapharma.com
- Contact your Local Octapharma Representative directly to obtain all the documentation needed.
Knowing about the presence and type of F8 gene mutation your hemophilia A patients may have can be invaluable information. It can help inform your decisions as you choose the F8 factor therapy best suited for your patient. Take advantage of this free public health service from Octapharma.
- Astermark J, et al. Haemophilia. 2010;16:747–66
- Oldenburg J & Pavlova A. Haemophilia. 2006;12:15–22