Hemophilia, a genetic bleeding disorder, requires precise and reliable diagnostic tools for accurate assessment of clotting factor levels and inhibitor presence. With our profound expertise in hemophilia diagnostic research, we are well-equipped to deliver tailor-made solutions and comprehensive support to facilitate your journey from hemophilia diagnostic research to commercialization.
Introduction to Hemophilia
Hemophilia, a rare genetic blood disorder, poses significant challenges due to its impact on blood clotting. Individuals with hemophilia exhibit symptoms such as excessive bleeding and bruising, resulting from a deficiency in clotting factors. The disorder is categorized into several types, with Hemophilia A and Hemophilia B being the most prevalent forms.
Hemophilia A, commonly referred to as classic hemophilia, is the predominant form of hemophilia, making up roughly 80% of all instances. Stemming from a deficit in clotting factor VIII, it impacts one in every 5,000 male newborns.
Hemophilia B, a less prevalent type of hemophilia constituting approximately 15% of cases, is defined by a shortage of clotting factor IX. It is estimated that around 1 in 20,000 male infants are impacted by hemophilia B.
Pathogenesis of Hemophilia
The pathogenesis of hemophilia lies in genetic mutations that affect the production of clotting factors essential for blood coagulation. Inherited in an X-linked recessive manner, hemophilia primarily affects males. Mutations in genes responsible for clotting factor synthesis lead to abnormal or insufficient clot formation, predisposing individuals to prolonged bleeding episodes. The severity of hemophilia varies based on the level of clotting factor deficiency, with severe cases posing life-threatening risks.
Fig. 1 Pathophysiology of hemophilia. (Bhardwaj, et al., 2018)
Common Diagnostic Products for Hemophilia
In vitro diagnostics (IVD) plays a critical role in the diagnosis and management of hemophilia, aiding in the identification of gene mutations, assessment of clotting factor levels and monitoring therapeutic efficacy. Currently, a variety of IVD products for hemophilia are available on the market, including IVD assay kits and point-of-care testing devices. Here are some common examples.
Clotting Factor Assay Kits
These assay kits can be utilized to measure the activity levels of clotting factors in plasma samples, including Factor VIII and Factor IX, which are crucial for the diagnosis and monitoring of hemophilia. Detection is typically based on chromogenic assays or one-stage clotting tests.
Inhibitor Testing Kits
These kits are used to detect and quantify clotting factor inhibitors (antibodies) in plasma samples. This is crucial for assessing inhibitor titers and guiding therapeutic strategies for affected individuals who develop inhibitors. The detection is based on neutralizing clotting factor activity in the presence of inhibitors.
Genetic Testing Kits
These kits aid in identifying gene mutations associated with hemophilia, such as those in the F8 gene and F9 gene, assisting in confirming diagnoses and determining the type of the disease. Detection is typically carried out using next-generation sequencing (NGS) or targeted gene testing panels.
POCT Devices
Point-of-care testing (POCT) coagulation analyzers are portable devices used for rapid assessment of clotting factor levels at the point of care. Their advantage lies in providing immediate results, aiding in prompt therapeutic decisions during emergency situations or for home monitoring.
Our Services
At our company, we specialize in developing IVD solutions for hemophilia. We are steadfast in our commitment to creating cutting-edge gene or clotting factor detection kits designed to precisely identify mutations within hemophilia-related genes and clotting factor levels with utmost accuracy. Our developed point-of-care testing devices feature portability and user-friendliness, enabling rapid diagnostic results to aid in making timely therapeutic decisions during emergencies.
IVD Product Development Services
Optional IVD Products
- Gene Detection Kits
- Clotting Factor Assay Kits
- Inhibitor Testing Kits
- POCT Coagulation Analyzers
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- And More
To advance personalized therapeutics for hemophilia, our scientists are also dedicated to the development of companion diagnostics. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Bhardwaj, Rahul, Goutam Rath, and Amit K. Goyal. "Advancement in the treatment of haemophilia." International journal of biological macromolecules 118 (2018): 289-295.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
