Which test is recommended for confirming the diagnosis of beta thalassemia or sickle cell anemia?

Hemoglobin electrophoresis is a crucial diagnostic test used to confirm conditions like beta thalassemia and sickle cell anemia. This test separates different types of hemoglobin present in the blood based on their size and charge, allowing for the identification of abnormal hemoglobin variants. In sickle cell anemia, for instance, hemoglobin S can be clearly distinguished from normal hemoglobin A, while in beta thalassemia, variations such as increased levels of hemoglobin F may be seen. The precise identification of these hemoglobins is necessary for an accurate diagnosis and subsequent management of these hemoglobinopathies.

While other tests like a bone marrow biopsy, peripheral smear, and reticulocyte count provide useful information about blood cell production and morphology, they do not specifically indicate the types of hemoglobin present in an individual’s blood. Bone marrow biopsy is more invasive and is typically reserved for diagnosing disorders related to blood cell production rather than confirming specific hemoglobin variants. A peripheral smear can reveal abnormalities in red blood cell shape and size, which might suggest hemoglobinopathies, but it cannot specifically confirm the type of hemoglobin. Similarly, a reticulocyte count assesses bone marrow activity in response to anemia but does not provide direct information about hemoglobin types