As congenital atransferrinemia is exceptionally rare and severe, there is a dire need for precise therapeutics that can deal with its underlying pathology. Protheragen boasts a talented team that has in-depth knowledge of congenital atransferrinemia. We are fully dedicated to dealing with the complex challenges posed by therapy development aimed at mitigating unmet therapeutic needs in congenital atransferrinemia, enhancing precision medicine in the discipline.
Introduction to Congenital Atransferrinemia
Congenital atransferrinemia, which is also referred to as hypotransferrinemia, represents an extreme infrequent disorder characterized by the near-complete absence of transferrin, an important protein which transports iron. This condition leads to severely problematic microcytic hypochromic anemia alongside an unusual excess of iron in tissues due to impaired iron utilization.
Fig.1 Dynamics of systemic iron balance. (Pantopoulos K., 2018)
Pathogenesis of Congenital Atransferrinemia
- Congenital atransferrinemia stems from mutations in the TF gene, which causes either a deficiency or complete lack of functional transferrin. In the absence of this iron-transport protein, iron supplied through food can't be properly transferred to erythroid precursors which causes ineffective erythropoiesis accompanied by severe microcytic hypochromic anemia.
- Furthermore, insufficient transferrin-mediated iron absorption leads to the accumulation of non-transferrin-bound iron (NTBI) in vital organs, especially the liver and pancreas, which causes oxidative stress, tissue damage, and secondary hemosiderosis.
Therapy Development for Congenital Atransferrinemia
| Therapy |
Mechanism of Action |
Phase |
| Plasma-Derived Human Transferrin |
Purified human transferrin from donor plasma binds and delivers iron to bone marrow and tissues. |
Approved |
| Recombinant Human Transferrin |
Engineered transferrin mimics natural protein function, improving iron delivery with reduced immunogenicity. |
Approved |
| Apotransferrin |
Iron-free transferrin binds excess circulating iron, reducing toxic non-transferrin-bound iron (NTBI). |
Approved |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Protheragen stands out by providing exceptional diagnostic and therapeutic development services for congenital atransferrinemia. With a relentless focus on expanding the boundaries of innovation, we specialize in the fabrication of advanced disease models that facilitates preclinical testing of therapies. We are committed to empowering our clients through advanced precision strategies and solutions that enable effective treatment development.
Animal Model Development Services
- Spontaneous Model: Spontaneous congenital atransferrinemia mice result from conventional breeding of the BALB/cJ strain and involves a splicing mutation in the TF gene leading to very low serum transferrin levels. This mouse model helps in studying disorders of iron metabolism and is useful for testing transferrin-based therapies.
Specializing in preclinical research for drug development, Protheragen offers a comprehensive solution that includes pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies to thoroughly validate and optimize therapies for congenital atransferrinemia. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Pantopoulos K. Inherited disorders of iron overload[J]. Frontiers in nutrition, 2018, 5: 103.
