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Diamond-Blackfan Anemia (DBA)

Diamond-Blackfan anemia (DBA) is a very rare blood disorder. With our company's profound expertise in Diamond-Blackfan anemia research, we are well-equipped to offer tailored solutions and comprehensive support to facilitate your research process from Diamond-Blackfan anemia therapy development to therapy commercialization.

Overview of Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) is an extremely rare blood disorder that affects the bone marrow and disrupts the production of red blood cells. Diamond-Blackfan anemia usually appears in infancy and causes a low red blood cell count. The incidence of Diamond-Blackfan anemia is estimated to be around 5 to 7 cases per million live births.

Effects of ribosomal protein (RP) gene mutations in Diamond-Blackfan anemia (DBA).Fig. 1 Summary of links between HSP70/GATA1 and p53 stabilization in DBA erythroid phenotype, depending on the RP gene mutation. (Da Costa, Lydie, et al., 2020)

Pathogenesis of Diamond-Blackfan Anemia

Approximately 70% of Diamond-Blackfan anemia cases are caused by mutations in a specific gene responsible for ribosomal protein (RP) production. Ribosomes play a vital role in protein synthesis and are essential for the normal function of cells, including red blood cells. The following are several RP genes associated with Diamond-Blackfan anemia.

Gene Name Description
RPL19 Mutations in the RPL19 gene can lead to premature death of immature red blood cells in the bone marrow.
RPL5 When RPL5 is mutated, it can cause developmental delays or facial differences such as cleft lip.
RPS26 RPS26 gene mutations can lead to abnormal synthesis of ribosomal proteins, thereby affecting the production and development of red blood cells.
RPL11 Mutations in the RPL11 gene can lead to impaired erythropoiesis and abnormal bone development.

Targets of Diamond-Blackfan Anemia Therapy

Ribosomal Protein Genes

Mutations in ribosomal protein (RP) genes are responsible for Diamond-Blackfan anemia, leading to compromised ribosome function and impaired erythropoiesis. Gene therapy can involve the use of viral vectors to deliver functional RP genes into the cells of affected individuals or utilize CRISPR/Cas9 technology to directly edit the mutated genes in affected individuals.

Erythropoietin (EPO) Pathway

The erythropoietin (EPO) pathway, which regulates erythropoiesis, is another potential target for therapeutic intervention in Diamond-Blackfan anemia. For example, EPO receptor agonists target EPO receptors and could potentially enhance erythropoiesis and reduce anemia symptoms in individuals with Diamond-Blackfan anemia.

Our Services

Our company leads the way in rare disease research and therapeutic development. We are committed to providing a comprehensive and integrated solution for diagnostic research and the development of therapies for Diamond-Blackfan anemia.

Diagnostic Development Service

Our company provides diagnostic development services to assist you in developing advanced diagnostic tools for Diamond-Blackfan anemia to facilitate early identification and accurate diagnosis of the disease.

Therapeutic Development Service

Our company provides a wide range of services for the development of small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein to accelerate your research on Diamond-Blackfan anemia therapy.

Animal Model Development Service

We offer our expertise in establishing animal models specifically tailored for Diamond-Blackfan anemia. These models serve as invaluable tools to facilitate the safety evaluation and pharmacokinetics study of your drug candidates.

Animal Models of Diamond-Blackfan Anemia

Xenograft Models
Xenograft models in Diamond-Blackfan anemia (DBA) involve the transplantation of human DBA patient-derived cells or tissues into immunodeficient animals. Some cell lines that can be utilized for constructing a xenograft model of DBA include K562, HEL, HUDEP-2, and others. These models aim to recapitulate the disease phenotype and pathophysiology observed in humans, providing a platform for studying the mechanisms underlying DBA and testing potential therapeutic interventions.
Chemical Induction Models
Chemical induction of DBA-like phenotypes in animal models can be achieved by exposing embryos or adult animals to chemicals that disrupt ribosome function or erythropoiesis. Our scientists have used chemicals such as 5-fluorouracil or cycloheximide to induce anemia and inhibit red blood cell production in animal models.
Genetically Engineered Models
Our company specializes in the development of animal models for Diamond-Blackfan anemia (DBA) using gene knockout, knock-in, or knockdown techniques. Our scientists have utilized CRISPR/Cas9 technology to precisely edit the genomes of mice or zebrafish, introducing mutations in ribosomal protein genes and generating DBA-like phenotypes in these models.
Optional Models
  • Rps19 Knockout Model
  • Rps19 Knockdown Model
  • Rps19 Missense Mutation Model
  • Rps6 Knockout Model
  • Rps14 Conditional Deletion Model
  • Rpl5 Mutation Model
  • Rpl11 Mutation Model
  • Rps26 Mutation Model
  • Rpl24 Mutation Model
  • Flvcr Knockout Model
  • Tcof1 Knockout Model
  • Sbds Knockout Model
  • Dkc1 Knock-in Model
  • Mdm2 Knock-in Model
Optional Species Mice, Rats, Rabbits, Zebrafish, Drosophila, Others

If you are interested in availing our services, please feel free to contact us for more information and a detailed quotation tailored to the specific services you need.


  • Da Costa, Lydie, Thierry Leblanc, and Narla Mohandas. "Diamond-blackfan anemia." Blood, The Journal of the American Society of Hematology 136.11 (2020): 1262-1273.
  • Liu, Yang, and Stefan Karlsson. "Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia." Leukemia 38.1 (2024): 1-9.

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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