A photo of Theodosia A. Kalfa.
Principal Investigator: Theodosia Kalfa, MD, PhD

Congenital Dyserythropoietic Anemias (CDAs) are a heterogeneous group of rare genetic disorders characterized by chronic anemia, iron overload and the distinctive finding of multinucleated erythroblasts in the bone marrow. While six genes are known so far to be associated with 60-70% of CDA cases, many gaps still exist in understanding the related molecular mechanisms primarily due to the lack of a systematic approach in studying these patients.

We have been working on establishing a comprehensive registry of patients with CDA (CDAR) in North America, with the goal to collect long-term phenotypic data and create a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology, natural history, and biology of CDA. We propose here novel pathogenetic gene discovery and validation, with the goal to further our understanding of the molecular defects underlying CDA pathology. This research will provide insights into erythropoiesis and iron-trafficking pathways and identify therapeutic targets not only for patients with CDA but also for common hematologic diseases characterized by ineffective erythropoiesis and iron overload.