Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2026 - Free CPHON Practice Questions and Study Guide

Newborn screening is commonly used for the diagnosis of beta thalassemia because it allows for early detection of the disorder shortly after birth. In many regions, screening tests include hemoglobin electrophoresis, which can identify abnormal hemoglobin variants associated with beta thalassemia. Early identification is crucial as it leads to timely management and treatment, potentially improving health outcomes for affected infants.

While bone marrow biopsy and MRI scans can provide valuable information in the assessment of various hematologic conditions, they are not first-line diagnostic tools specifically for beta thalassemia. Genetic testing can confirm a diagnosis of beta thalassemia, especially when there is a family history or when other screening results suggest it, but it is not routinely used as initial testing in newborns. Newborn screening protocols generally focus on prompt detection rather than genetic confirmation at the outset.