DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia. (May 2022)

• Record Type: Journal Article
• Authors: Sidda, Adarsh; Manu, Gurusidda; Alsharedi, Mohamed; Dotson, Jennifer; Nahar, Niru
• Is Part Of: Journal of investigative medicine high impact case reports. Volume 10(2022)
• Publication Date: 2022-05
• Subjects: DNMT3A -- pure red cell aplasia -- anemia -- reticulocytopenia -- Diamond-Blackfan anemia; Internal medicine -- Periodicals; Medical care -- Periodicals; 616.005
• DOI: 10.1177/23247096221097523
• Languages: English
• ISSNs: 2324-7096

Abstract

Pure red cell aplasia (PRCA) is a rare disorder mainly affecting the erythroid precursor cells. It presents with severe isolated reticulocytopenia with relatively normal counts in the myeloid and megakaryocytic lineages. It has been attributed to numerous congenital and acquired causes. DNA Methyl Transferase 3 Alpha (DNMT3A) mutation has been typically associated with myeloid and lymphoid malignancies. There is a scarcity of data regarding the association of DNMT3A mutation with PRCA. We report a case of a 73-year-old man who initially presented with anemia and reticulocytopenia. After a thorough evaluation and eventual bone marrow biopsy, he was diagnosed with PRCA. Further genetic testing identified a DNMT3A mutation. We are reporting this rare case to highlight the fact that DNMT3A mutation can also present as isolated PRCA in and of itself without the co-occurrence of leukemia, lymphoma, or myelodysplastic syndrome (MDS).