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Hemophilia

Hemophilia is a rare genetic blood disorder. With our pioneering efforts in hemophilia research, we are at the forefront of developing cutting-edge diagnostic tools and therapeutics to facilitate the effective management of hemophilia. As your reliable partner in hemophilia research, we offer unmatched support to fulfill your scientific research needs.

Overview of Hemophilia

Hemophilia is a rare genetic blood disorder that causes reduced blood clotting, leading to an increased risk of bleeding or bruising. Hemophilia encompasses two primary types: hemophilia A and hemophilia B. These forms of hemophilia are inherited in an X-linked recessive pattern. As a result, the diseases predominantly affect males.

Disease Name Pathogenesis Incidence (Male Births) Inheritance
Hemophilia A Low levels of clotting factor VIII (FVIII) 1/5,000–1/10,000 X-linked recessive inheritance
Hemophilia B Low levels of clotting factor IX (FIX) 1/40,000 X-linked recessive inheritance
Mechanisms of anti-FVIII alloantibody development.Fig. 1 Mechanisms of anti-FVIII alloantibody development. (Prezotti, et al., 2022)

Diagnostic Progress of Hemophilia

Progress in laboratory testing and molecular diagnostics has greatly contributed to the development of hemophilia diagnosis.

  • Complete Blood Count (CBC)
  • Activated Partial Thromboplastin Time Test
  • Genetic Testing
  • Chorionic Villus Sampling (CVS) Examination
  • Prothrombin Time (PT) Test
  • Clotting Factor Test
  • Next-generation Sequencing (NGS)
  • Amniocentesis

Types of Hemophilia Therapy

Clotting Factors Replacement Therapy

One of the main goals in the development of therapeutics for hemophilia is to replace missing or deficient clotting factors. The production of recombinant coagulation factors by genetic engineering has revolutionized the therapeutics of hemophilia. Recombinant factor VIII (rFVIII) and recombinant factor IX (rFIX) have become standard therapeutics for individuals with hemophilia A and hemophilia B, respectively.

Gene Therapy

Gene therapy has emerged as a promising approach for treating hemophilia. It involves the introduction of functional copies of the defective gene responsible for hemophilia into the cells of hemophilia individuals. The goal is to enable the production of sufficient clotting factors to restore normal blood clotting. Gene therapy offers the potential for long-lasting effects and reduced reliance on frequent infusions of clotting factors.

Our Services

Drawing upon our deep expertise in biotechnology and extensive experience in the industry, our company offers all-encompassing solutions for diagnostic and therapeutic research dedicated to hemophilia.

Genetically Engineered Models
Our company is dedicated to the development of genetically engineered hemophilia models. Our team of scientists utilizes techniques such as transgenics and gene editing to introduce or modify specific genes in various animal models, effectively inducing the hemophilia phenotype.
Optional Models
  • FVIII Knockout Model
  • Clone Model
  • FIX Knockout Model
  • FIX Knock-in Model
Optional Species Mice, Dogs, Rats, Pigs, Sheep, Pigs, Others

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.

References

  • Prezotti, Alessandra NL, et al. "Immunogenicity of current and new therapies for hemophilia a." Pharmaceuticals 15.8 (2022): 911.
  • Yen, Ching-Tzu, et al. "Current animal models of hemophilia: the state of the art." Thrombosis journal 14 (2016): 101-106.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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