Therapeutic Development Services
Hereditary spherocytosis is a genetic disorder characterized by abnormalities in red blood cell membranes. Protheragen is committed to providing cutting-edge diagnostic and therapeutic development solutions to address the challenges of hereditary spherocytosis management. As your reliable partner in hereditary spherocytosis therapeutic research, we provide comprehensive and high-quality services to meet all your scientific research needs.
Hereditary spherocytosis ranks as the most common type of congenital hemolytic anemia affecting Northern Europeans with a frequency of about 1 in 2000 births. This is an autosomal dominant disorder caused by mutations in erythrocyte membrane protein's genes that result in the formation of spheroidal erythrocytes, chronic hemolysis, and splenic sequestration.
Fig.1 Cold agglutinin disease (CAD) is an acquired autoimmune hemolytic anemia (AIHA). (Climent F, et al., 2022)
The main cause of hereditary spherocytosis stems from genetic alterations that impact red blood cell membranes proteins spectrin, ankyrin-1, band 3, and protein 4.2 which are constituents of the cytoskeletal proteins critical for the mechanical support of red blood cells. These mutations cause red blood cells to adopt a spheroidal configuration that is less deformable and easily destroyed by the spleen, leading to premature hemolytic anemia and other associated symptoms.
Fig.2 The process of spherocyte formation. (Corebima B I R V, et al., 2022)
Management remains dominated by splenectomy in moderate to severe cases as it decreases hemolysis. However, this requires lifelong monitoring for infection or thrombosis. Mild cases require supportive care such as blood transfusions and folic acid. The absence of targeted membrane stabilizing drugs and limited alternatives for moderate to severe cases calls for urgent development of new therapies.
| Therapy | Types | Mechanism of Action | Phase |
|---|---|---|---|
| Splenectomy | Surgical intervention | Removes primary site of spherocyte destruction (splenic macrophages), reducing extravascular hemolysis by >90%. | Approved |
| Folic Acid | Nutritional supplement | Supports increased erythropoiesis by providing methyl groups for DNA synthesis in bone marrow progenitors. | Approved |
| Blood Transfusions | Supportive therapy | Replaces defective RBCs with functional donor erythrocytes to maintain hemoglobin levels. | 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.
At Protheragen, we provide end-to-end research and development services for hereditary spherocytosis. Our capabilities include advanced diagnostics, therapeutic development, disease modeling, and comprehensive preclinical evaluation. We are also adept at generating disease models that aim to capture the complex mechanisms and processes involved in the development of hereditary spherocytosis.
Therapeutic Development Services
As a leading provider of therapeutic development services, Protheragen is focused on developing a variety of innovative therapies for hereditary spherocytosis to address the complex challenges in this field.
Protheragen focuses on providing tailored solutions for the creation of genetically engineered models for hereditary spherocytosis. All of these models permit evaluation of new treatment strategies targeting membrane stability, splenic retention, and ineffective erythropoiesis.
As a research service provider, Protheragen offers comprehensive pharmacodynamic (PD), pharmacokinetic (PK), and toxicology research services to support the development and regulatory approval of potential therapies for hereditary spherocytosis. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)
