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Hemophilia

Hemophilia appears as a genetic blood condition that makes blood clotting hard which leads to more bleeding and bruising. Protheragen understands the challenges researchers face in developing hemophilia treatments. Our team supports researchers by speeding up their hemophilia therapy development through multiple testing options and services. We are committed to providing high quality data, delivered in a collaborative and timely manner by outstanding scientists.

Genetic Characteristics of Hemophilia

Hemophilia is an X-linked recessive disorder usually passed from male patients to female offspring, who are usually carriers. Male patients make up the majority of all hemophiliacs, with hemophilia A accounting for 80% to 85% of cases, hemophilia B 15% to 20%, and hemophilia C more rarely.

Figure 1. Comparison of characteristics of hemophilia A and B.Figure 1. Comparison of characteristics of hemophilia A and B. (Castaman G, Matino D, 2019)

Diagnosis of Hemophilia

The diagnosis of hemophilia relies on laboratory tests, including clotting factor activity assays, genetic testing, and family history analysis. Early diagnosis and treatment are essential to prevent complications.

Treatment of hemophilia

There is no cure for hemophilia, but the condition can be effectively managed with alternative therapies. Common treatments include:

  • Factor replacement therapy: Replacement of missing clotting factors by transfusion of clotting factor concentrates is currently the most effective treatment.
  • Prophylaxis: Regular transfusions of clotting factors to prevent bleeding events, especially for patients with severe hemophilia.
  • Inhibitor management: Some patients may develop inhibitory antibodies and require special treatment strategies.
  • Gene therapy: In recent years, new gene therapy technologies such as Hemgenix, which requires a single infusion and maintains high IX factor levels for many years, are being gradually applied in the clinic.

Disclaimer: Protheragen specializes in providing preclinical research services. The above is for informational purposes only. It is not intended as a recommendation for a treatment program. For guidance on treatment options, please visit the regular hospital.

Our Services

Diagnostic Method Development Services for Hemophilia

Method development for coagulation assays

  • Activated partial thromboplastin time (aPTT) analysis
  • Factor VIII and IX activity assays
  • Other related tests: including prothrombin time (PT), fibrinogen concentration, D-dimer level, etc.

Our Technology

  • PCR technology: for the detection of specific gene mutations to diagnose hemophilia A and B.
  • Third-generation sequencing: for comprehensive identification of F8 gene mutations to improve the accuracy and efficiency of hemophilia diagnosis.
  • DNA blotting and restriction endonuclease fragment length polymorphism analysis: for carrier screening and prenatal diagnosis.

Therapeutic Development Services for Hemophilia

Types of therapy development we support:

  • Recombinant coagulation factor
  • Long-acting coagulation factor
  • Bispecific antibodies
  • AAV (Adeno-associated virus)-based gene therapy
  • Anticoagulant inhibitors

We support the development of therapies for hemophilia through a variety of technologies, including gene therapy, gene editing technologies, drug therapies, and novel bioengineered products. We are committed to helping researchers reduce costs, improve efficacy, and facilitate collaboration on a global scale.

Model Development Services for Hemophilia

In Vitro Models

  • Tissue culture systems
  • Pseudohaemophilia models
  • Mouse hepatocyte Model

In Vivo Models

  • Hemophilia A mouse model: mice with knockout of F8 gene or FVIII gene defects
  • Hemophilia B mouse model: mice with knockout of FIX or F9 gene defects
  • SD-F8 knockout rat model
  • Canine coagulation factor gene editing model
  • Non-human primate model
  • Hemophilia A sheep model

All of our services are designed to help researchers fully understand the pathomechanisms of hemophilia and to facilitate the development of more effective treatments. If you are interested in our services, please feel free to contact us for more details and quotation information on related services.

Reference

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