Family Nurse Practitioner Exam

Which test is primarily recommended to confirm the diagnosis of beta thalassemia or sickle cell anemia?

1. Bone marrow biopsy

2. Peripheral smear

3. Reticulocyte count

4. Hemoglobin electrophoresis

The correct answer is: Bone marrow biopsy

The key test for confirming the diagnosis of beta thalassemia or sickle cell anemia is hemoglobin electrophoresis. This method allows for the separation and identification of different hemoglobin types in the blood. In disorders like beta thalassemia and sickle cell anemia, the presence of abnormal hemoglobin profiles can be detected, which is crucial for diagnosis. For instance, in sickle cell anemia, the hemoglobin S variant will be present in significant amounts. Similarly, in beta thalassemia, hemoglobin A2 and F levels may be elevated compared to normal controls. Hemoglobin electrophoresis is essential in differentiating between these conditions, guiding treatment choices, and providing crucial genetic counseling for affected individuals and their families. While a bone marrow biopsy may be useful in certain contexts for diagnosing hematologic disorders, it is not the primary test for beta thalassemia or sickle cell anemia. Other tests like peripheral smears and reticulocyte counts provide valuable information in assessing hemolysis or anemia but do not confirm these specific diagnoses.