Congenital dyserythropoietic anemia (CDA) is an uncommon type of anemia. Protheragen's focus is on creating new therapeutics and constructing precise animal models to expedite preclinical research for CDA potential therapies. With our extensive experience, we are able to provide dependable and applicable assistance toward your research, optimally streamlining your drug development processes.
Congenital dyserythropoietic anemia (CDA) denotes an uncommon and heterogeneous group of genetically transmitted disorders of bone marrow associated with underproduction of red blood cells, morphological abnormalities in erythroid precursors, and chronic anemia. It is subdivided into three major subtypes which vary in their underlying genetics, clinical presentations, and pathologic changes.
| Subtypes | Genetic Cause | Clinical Features | Prevalence |
|---|---|---|---|
| CDA I | CDAN1 or C15ORF41 | Moderate anemia, jaundice, iron overload, and occasional skeletal abnormalities. | Lower incidence than CDA II |
| CDA II | SEC23B | More severe hemolysis, splenomegaly, and positive acidified serum lysis test. | Most common subtype |
| CDA III | KIF23 | Mild anemia, multinucleated erythroblasts, and rare retinal angioid streaks. | Rarest subtype |
The pathogenesis of congenital dyserythropoietic anemia (CDA) entails specific genetic defects of each subtype which affects vital processes within erythropoiesis. The altered genes related to the three subtypes of CDA are detailed in the previous table. Collectively, these molecular abnormalities result in inadequate erythropoiesis, as demonstrated by excessive apoptosis of dysplastic erythroid precursors, persistent anemia, and secondary iron overload.
Fig.1 Pathogenesis of CDA II. (Iolascon A, et al., 2020)
| Therapy | Mechanism of Action | Targets | Phase |
|---|---|---|---|
| Iron Chelating Agents | Bind excess iron and promote its excretion, preventing organ damage from iron overload. | Free iron (Fe3+) in tissues | Approved |
| Interferon Alpha-2A | Modulates erythropoiesis. | JAK-STAT signaling pathway | Phase II/III |
| Blood Transfusions | Provides functional erythrocytes to compensate for defective erythropoiesis. | / | 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.
As a leading research service provider, Protheragen has focused on developing diagnostic and therapeutic solutions for rare anemias like congenital dyserythropoietic anemia (CDA). We offer comprehensive therapeutic development services such as gene therapy, cell therapy, and small molecule drug discovery. Each innovative scientific approach undergoes rigorous preclinical testing in the exacting disease models to ensure the rapid translation of scientific milestones into market-ready products.
Protheragen is steadfastly dedicated to meticulously validating and optimizing therapies for congenital dyserythropoietic anemia (CDA) through a thorough series of pharmacodynamics (PD), pharmacokinetics (PK) and toxicology studies. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)
