Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

Diamond-Blackfan Anemia (DBA) is characterized by a failure of the bone marrow to produce enough red blood cells. This condition is often associated with mutations in ribosomal protein genes, which are crucial for proper ribosome function and, consequently, protein synthesis within cells. The gene RPS19, located on chromosome 19q13.2, has been well-established as one of the primary genetic causes of DBA. Mutations in this gene lead to ineffective erythropoiesis and a higher propensity for certain cancers, making RPS19 a significant focus in the study of Diamond-Blackfan Anemia.

Understanding the genetic basis of DBA is essential because it informs clinical management, genetic counseling, and potential treatments for affected individuals. The other genes listed in the options may also be associated with different forms of anemia or other syndromes, but RPS19's direct link to Diamond-Blackfan Anemia, along with its specific chromosomal location, makes it the most accurate answer to the question.